Canonical Allele Identifier: CA349879003

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189927611A>T (hg19) ; chr2:g.189062885A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062885A>T , CM000664.2:g.189062885A>T	GRCh38
NC_000002.11:g.189927611A>T , CM000664.1:g.189927611A>T	GRCh37
NC_000002.10:g.189635856A>T	NCBI36
NG_011799.1:g.121995T>A
NG_011799.2:g.121995T>A
NG_011799.3:g.167417T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.1957T>A MANE Select	ENSP00000364000.3:p.Ser653Thr
ENST00000374866.7:c.1957T>A	ENSP00000364000.3:p.Ser653Thr
ENST00000470524.2:n.63T>A
ENST00000618828.1:c.796T>A	ENSP00000482184.1:p.Ser266Thr
NM_000393.3:c.1957T>A	NP_000384.2:p.Ser653Thr
XM_011510573.1:c.1819T>A	XP_011508875.1:p.Ser607Thr
NM_000393.4:c.1957T>A	NP_000384.2:p.Ser653Thr
XM_011510573.3:c.1819T>A	XP_011508875.1:p.Ser607Thr
NM_000393.5:c.1957T>A MANE Select	NP_000384.2:p.Ser653Thr