Canonical Allele Identifier: CA349879052

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189927621T>A (hg19) ; chr2:g.189062895T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062895T>A , CM000664.2:g.189062895T>A	GRCh38
NC_000002.11:g.189927621T>A , CM000664.1:g.189927621T>A	GRCh37
NC_000002.10:g.189635866T>A	NCBI36
NG_011799.1:g.121985A>T
NG_011799.2:g.121985A>T
NG_011799.3:g.167407A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1947A>T MANE Select	ENSP00000364000.3:p.Glu649Asp
ENST00000374866.7:c.1947A>T	ENSP00000364000.3:p.Glu649Asp
ENST00000470524.2:n.53A>T
ENST00000618828.1:c.786A>T	ENSP00000482184.1:p.Glu262Asp
NM_000393.3:c.1947A>T	NP_000384.2:p.Glu649Asp
XM_011510573.1:c.1809A>T	XP_011508875.1:p.Glu603Asp
NM_000393.4:c.1947A>T	NP_000384.2:p.Glu649Asp
XM_011510573.3:c.1809A>T	XP_011508875.1:p.Glu603Asp
NM_000393.5:c.1947A>T MANE Select	NP_000384.2:p.Glu649Asp