Canonical Allele Identifier: CA349878972

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189927607C>A (hg19) ; chr2:g.189062881C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062881C>A , CM000664.2:g.189062881C>A	GRCh38
NC_000002.11:g.189927607C>A , CM000664.1:g.189927607C>A	GRCh37
NC_000002.10:g.189635852C>A	NCBI36
NG_011799.1:g.121999G>T
NG_011799.2:g.121999G>T
NG_011799.3:g.167421G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.1961G>T MANE Select	ENSP00000364000.3:p.Gly654Val
ENST00000374866.7:c.1961G>T	ENSP00000364000.3:p.Gly654Val
ENST00000470524.2:n.67G>T
ENST00000618828.1:c.800G>T	ENSP00000482184.1:p.Gly267Val
NM_000393.3:c.1961G>T	NP_000384.2:p.Gly654Val
XM_011510573.1:c.1823G>T	XP_011508875.1:p.Gly608Val
NM_000393.4:c.1961G>T	NP_000384.2:p.Gly654Val
XM_011510573.3:c.1823G>T	XP_011508875.1:p.Gly608Val
NM_000393.5:c.1961G>T MANE Select	NP_000384.2:p.Gly654Val