Canonical Allele Identifier: CA1040416131

Gene: COL5A2

Linked Data

• dbSNP Id: rs1686068491
• gnomAD v3: 2-189062995-A-G
• gnomAD v4: 2-189062995-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062995A>G , CM000664.2:g.189062995A>G	GRCh38
NC_000002.11:g.189927721A>G , CM000664.1:g.189927721A>G	GRCh37
NC_000002.10:g.189635966A>G	NCBI36
NG_011799.1:g.121885T>C
NG_011799.2:g.121885T>C
NG_011799.3:g.167307T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1923+15T>C MANE Select	ENSP00000364000.3:n.1923+15T>C
ENST00000374866.7:c.1923+15T>C	ENSP00000364000.3:n.1923+15T>C
ENST00000470524.2:n.29+15T>C
ENST00000618828.1:c.762+15T>C	ENSP00000482184.1:n.762+15T>C
NM_000393.3:c.1923+15T>C	NP_000384.2:n.1923+15T>C
XM_011510573.1:c.1785+15T>C	XP_011508875.1:n.1785+15T>C
NM_000393.4:c.1923+15T>C	NP_000384.2:n.1923+15T>C
XM_011510573.3:c.1785+15T>C	XP_011508875.1:n.1785+15T>C
NM_000393.5:c.1923+15T>C MANE Select	NP_000384.2:n.1923+15T>C