Homo sapiens collagen type II alpha 1 chain (COL2A1), transcript varia - Nucleotide

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The molecular complexity of COL2A1 splicing variants and their significance in phenotype severity. [Bone. 2024]
The molecular complexity of COL2A1 splicing variants and their significance in phenotype severity.
Viakhireva I, Bychkov I, Markova T, Shatokhina O, Karandasheva K, Udalova V, Bekhtereva Y, Ryzhkova O, Skoblov M. Bone. 2024 Apr; 181:117013. Epub 2024 Jan 19.
Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family. [Calcif Tissue Int. 2023]
Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family.
Ma J, Zhang Y, Ding X, Liang Z, Yang C, Deng Z, He H, Guan Z, Zeng C, Lin Y, et al. Calcif Tissue Int. 2023 Sep; 113(3):266-275. Epub 2023 Jun 6.
Characteristics of a Three-Generation Family with Stickler Syndrome Type I Carrying Two Different COL2A1 Mutations. [Genes (Basel). 2023]
Characteristics of a Three-Generation Family with Stickler Syndrome Type I Carrying Two Different COL2A1 Mutations.
Jacobson A, Besirli CG, Bohnsack BL. Genes (Basel). 2023 Mar 31; 14(4). Epub 2023 Mar 31.

RefSeq alternative splicing
See 12 reference mRNA sequence splice variants for the COL2A1 gene.
RefSeq protein product
See the reference protein sequence for collagen alpha-1(II) chain isoform 1 precursor (NP_001835.3).

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Protein sequence from Nucleotide coding region
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Nucleotide