ClinVar

NM_001378615.1(CC2D2A):c.2853C>T (p.Asp951=)

Gene:

CC2D2A:coiled-coil and C2 domain containing 2A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p15.32

Genomic location:

• Chr4: 15559188 (on Assembly GRCh38)
• Chr4: 15560811 (on Assembly GRCh37)

Preferred name:

NM_001378615.1(CC2D2A):c.2853C>T (p.Asp951=)

HGVS:

• NC_000004.12:g.15559188C>T
• NG_013035.1:g.94323C>T
• NM_001080522.2:c.2853C>T
• NM_001378615.1:c.2853C>TMANE SELECT
• NM_001378617.1:c.2706C>T
• NM_020785.1:c.2706C>T
• NP_001073991.2:p.Asp951=
• NP_001365544.1:p.Asp951=
• NP_001365546.1:p.Asp902=
• NP_065836.1:p.Asp902=
• LRG_697t1:c.2853C>T
• LRG_697:g.94323C>T
• LRG_697p1:p.Asp951=
• NC_000004.11:g.15560811C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001080522.2:c.2853C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001378615.1:c.2853C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001378617.1:c.2706C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020785.1:c.2706C>T - synonymous variant - [Sequence Ontology: SO:0001819]