Canonical Allele Identifier: CA349879023

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189927616C>T (hg19) ; chr2:g.189062890C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062890C>T , CM000664.2:g.189062890C>T	GRCh38
NC_000002.11:g.189927616C>T , CM000664.1:g.189927616C>T	GRCh37
NC_000002.10:g.189635861C>T	NCBI36
NG_011799.1:g.121990G>A
NG_011799.2:g.121990G>A
NG_011799.3:g.167412G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1952G>A MANE Select	ENSP00000364000.3:p.Gly651Asp
ENST00000374866.7:c.1952G>A	ENSP00000364000.3:p.Gly651Asp
ENST00000470524.2:n.58G>A
ENST00000618828.1:c.791G>A	ENSP00000482184.1:p.Gly264Asp
NM_000393.3:c.1952G>A	NP_000384.2:p.Gly651Asp
XM_011510573.1:c.1814G>A	XP_011508875.1:p.Gly605Asp
NM_000393.4:c.1952G>A	NP_000384.2:p.Gly651Asp
XM_011510573.3:c.1814G>A	XP_011508875.1:p.Gly605Asp
NM_000393.5:c.1952G>A MANE Select	NP_000384.2:p.Gly651Asp