Canonical Allele Identifier: CA349879168

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189927640G>T (hg19) ; chr2:g.189062914G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062914G>T , CM000664.2:g.189062914G>T	GRCh38
NC_000002.11:g.189927640G>T , CM000664.1:g.189927640G>T	GRCh37
NC_000002.10:g.189635885G>T	NCBI36
NG_011799.1:g.121966C>A
NG_011799.2:g.121966C>A
NG_011799.3:g.167388C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1928C>A MANE Select	ENSP00000364000.3:p.Ala643Asp
ENST00000374866.7:c.1928C>A	ENSP00000364000.3:p.Ala643Asp
ENST00000470524.2:n.34C>A
ENST00000618828.1:c.767C>A	ENSP00000482184.1:p.Ala256Asp
NM_000393.3:c.1928C>A	NP_000384.2:p.Ala643Asp
XM_011510573.1:c.1790C>A	XP_011508875.1:p.Ala597Asp
NM_000393.4:c.1928C>A	NP_000384.2:p.Ala643Asp
XM_011510573.3:c.1790C>A	XP_011508875.1:p.Ala597Asp
NM_000393.5:c.1928C>A MANE Select	NP_000384.2:p.Ala643Asp