Canonical Allele Identifier: CA349876443

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189923619C>T (hg19) ; chr2:g.189058893C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058893C>T , CM000664.2:g.189058893C>T	GRCh38
NC_000002.11:g.189923619C>T , CM000664.1:g.189923619C>T	GRCh37
NC_000002.10:g.189631864C>T	NCBI36
NG_011799.1:g.125987G>A
NG_011799.2:g.125987G>A
NG_011799.3:g.171409G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2086G>A MANE Select	ENSP00000364000.3:p.Gly696Ser
ENST00000374866.7:c.2086G>A	ENSP00000364000.3:p.Gly696Ser
ENST00000470524.2:n.192G>A
ENST00000618828.1:c.925G>A	ENSP00000482184.1:p.Gly309Ser
NM_000393.3:c.2086G>A	NP_000384.2:p.Gly696Ser
XM_011510573.1:c.1948G>A	XP_011508875.1:p.Gly650Ser
NM_000393.4:c.2086G>A	NP_000384.2:p.Gly696Ser
XM_011510573.3:c.1948G>A	XP_011508875.1:p.Gly650Ser
NM_000393.5:c.2086G>A MANE Select	NP_000384.2:p.Gly696Ser