Canonical Allele Identifier: CA349878952

Gene: COL5A2

Linked Data

• dbSNP Id: rs1244376351
• gnomAD v2: 2-189927602-C-T
• gnomAD v4: 2-189062876-C-T
• MyVariant Identifiers: chr2:g.189927602C>T (hg19) ; chr2:g.189062876C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062876C>T , CM000664.2:g.189062876C>T	GRCh38
NC_000002.11:g.189927602C>T , CM000664.1:g.189927602C>T	GRCh37
NC_000002.10:g.189635847C>T	NCBI36
NG_011799.1:g.122004G>A
NG_011799.2:g.122004G>A
NG_011799.3:g.167426G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.1966G>A MANE Select	ENSP00000364000.3:p.Val656Met
ENST00000374866.7:c.1966G>A	ENSP00000364000.3:p.Val656Met
ENST00000470524.2:n.72G>A
ENST00000618828.1:c.805G>A	ENSP00000482184.1:p.Val269Met
NM_000393.3:c.1966G>A	NP_000384.2:p.Val656Met
XM_011510573.1:c.1828G>A	XP_011508875.1:p.Val610Met
NM_000393.4:c.1966G>A	NP_000384.2:p.Val656Met
XM_011510573.3:c.1828G>A	XP_011508875.1:p.Val610Met
NM_000393.5:c.1966G>A MANE Select	NP_000384.2:p.Val656Met