Canonical Allele Identifier: CA1040408207

Gene: COL5A2

Linked Data

• dbSNP Id: rs918314752
• gnomAD v3: 2-189050247-C-A
• gnomAD v4: 2-189050247-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050247C>A , CM000664.2:g.189050247C>A	GRCh38
NC_000002.11:g.189914973C>A , CM000664.1:g.189914973C>A	GRCh37
NC_000002.10:g.189623218C>A	NCBI36
NG_011799.1:g.134633G>T
NG_011799.2:g.134633G>T
NG_011799.3:g.180055G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3039+322G>T MANE Select	ENSP00000364000.3:n.3039+322G>T
ENST00000374866.7:c.3039+322G>T	ENSP00000364000.3:n.3039+322G>T
ENST00000618828.1:c.1878+322G>T	ENSP00000482184.1:n.1878+322G>T
NM_000393.3:c.3039+322G>T	NP_000384.2:n.3039+322G>T
XM_011510573.1:c.2901+322G>T	XP_011508875.1:n.2901+322G>T
NM_000393.4:c.3039+322G>T	NP_000384.2:n.3039+322G>T
XM_011510573.3:c.2901+322G>T	XP_011508875.1:n.2901+322G>T
NM_000393.5:c.3039+322G>T MANE Select	NP_000384.2:n.3039+322G>T