Canonical Allele Identifier: CA349879111

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189927629C>T (hg19) ; chr2:g.189062903C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062903C>T , CM000664.2:g.189062903C>T	GRCh38
NC_000002.11:g.189927629C>T , CM000664.1:g.189927629C>T	GRCh37
NC_000002.10:g.189635874C>T	NCBI36
NG_011799.1:g.121977G>A
NG_011799.2:g.121977G>A
NG_011799.3:g.167399G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1939G>A MANE Select	ENSP00000364000.3:p.Asp647Asn
ENST00000374866.7:c.1939G>A	ENSP00000364000.3:p.Asp647Asn
ENST00000470524.2:n.45G>A
ENST00000618828.1:c.778G>A	ENSP00000482184.1:p.Asp260Asn
NM_000393.3:c.1939G>A	NP_000384.2:p.Asp647Asn
XM_011510573.1:c.1801G>A	XP_011508875.1:p.Asp601Asn
NM_000393.4:c.1939G>A	NP_000384.2:p.Asp647Asn
XM_011510573.3:c.1801G>A	XP_011508875.1:p.Asp601Asn
NM_000393.5:c.1939G>A MANE Select	NP_000384.2:p.Asp647Asn