Canonical Allele Identifier: CA349879153

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189927637G>A (hg19) ; chr2:g.189062911G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062911G>A , CM000664.2:g.189062911G>A	GRCh38
NC_000002.11:g.189927637G>A , CM000664.1:g.189927637G>A	GRCh37
NC_000002.10:g.189635882G>A	NCBI36
NG_011799.1:g.121969C>T
NG_011799.2:g.121969C>T
NG_011799.3:g.167391C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1931C>T MANE Select	ENSP00000364000.3:p.Pro644Leu
ENST00000374866.7:c.1931C>T	ENSP00000364000.3:p.Pro644Leu
ENST00000470524.2:n.37C>T
ENST00000618828.1:c.770C>T	ENSP00000482184.1:p.Pro257Leu
NM_000393.3:c.1931C>T	NP_000384.2:p.Pro644Leu
XM_011510573.1:c.1793C>T	XP_011508875.1:p.Pro598Leu
NM_000393.4:c.1931C>T	NP_000384.2:p.Pro644Leu
XM_011510573.3:c.1793C>T	XP_011508875.1:p.Pro598Leu
NM_000393.5:c.1931C>T MANE Select	NP_000384.2:p.Pro644Leu