Canonical Allele Identifier: CA349861013

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189907957C>G (hg19) ; chr2:g.189043231C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189043231C>G , CM000664.2:g.189043231C>G	GRCh38
NC_000002.11:g.189907957C>G , CM000664.1:g.189907957C>G	GRCh37
NC_000002.10:g.189616202C>G	NCBI36
NG_011799.1:g.141649G>C
NG_011799.2:g.141649G>C
NG_011799.3:g.187071G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.3391G>C MANE Select	ENSP00000364000.3:p.Gly1131Arg
ENST00000374866.7:c.3391G>C	ENSP00000364000.3:p.Gly1131Arg
ENST00000618828.1:c.2230G>C	ENSP00000482184.1:p.Gly744Arg
NM_000393.3:c.3391G>C	NP_000384.2:p.Gly1131Arg
XM_011510573.1:c.3253G>C	XP_011508875.1:p.Gly1085Arg
NM_000393.4:c.3391G>C	NP_000384.2:p.Gly1131Arg
XM_011510573.3:c.3253G>C	XP_011508875.1:p.Gly1085Arg
NM_000393.5:c.3391G>C MANE Select	NP_000384.2:p.Gly1131Arg