Canonical Allele Identifier: CA62601107
Gene: COL5A2 HGNC NCBI

Linked Data

dbSNP Id: rs903193186

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189062848A>G , CM000664.2:g.189062848A>G GRCh38
NC_000002.11:g.189927574A>G , CM000664.1:g.189927574A>G GRCh37
NC_000002.10:g.189635819A>G NCBI36
NG_011799.1:g.122032T>C
NG_011799.2:g.122032T>C
NG_011799.3:g.167454T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.1977+17T>C MANE Select ENSP00000364000.3:n.1977+17T>C
ENST00000374866.7:c.1977+17T>C ENSP00000364000.3:n.1977+17T>C
ENST00000470524.2:n.83+17T>C
ENST00000618828.1:c.816+17T>C ENSP00000482184.1:n.816+17T>C
NM_000393.3:c.1977+17T>C NP_000384.2:n.1977+17T>C
XM_011510573.1:c.1839+17T>C XP_011508875.1:n.1839+17T>C
NM_000393.4:c.1977+17T>C NP_000384.2:n.1977+17T>C
XM_011510573.3:c.1839+17T>C XP_011508875.1:n.1839+17T>C
NM_000393.5:c.1977+17T>C MANE Select NP_000384.2:n.1977+17T>C