Canonical Allele Identifier: CA349878938

Gene: COL5A2

Linked Data

• dbSNP Id: rs1576502064
• MyVariant Identifiers: chr2:g.189927601A>C (hg19) ; chr2:g.189062875A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062875A>C , CM000664.2:g.189062875A>C	GRCh38
NC_000002.11:g.189927601A>C , CM000664.1:g.189927601A>C	GRCh37
NC_000002.10:g.189635846A>C	NCBI36
NG_011799.1:g.122005T>G
NG_011799.2:g.122005T>G
NG_011799.3:g.167427T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.1967T>G MANE Select	ENSP00000364000.3:p.Val656Gly
ENST00000374866.7:c.1967T>G	ENSP00000364000.3:p.Val656Gly
ENST00000470524.2:n.73T>G
ENST00000618828.1:c.806T>G	ENSP00000482184.1:p.Val269Gly
NM_000393.3:c.1967T>G	NP_000384.2:p.Val656Gly
XM_011510573.1:c.1829T>G	XP_011508875.1:p.Val610Gly
NM_000393.4:c.1967T>G	NP_000384.2:p.Val656Gly
XM_011510573.3:c.1829T>G	XP_011508875.1:p.Val610Gly
NM_000393.5:c.1967T>G MANE Select	NP_000384.2:p.Val656Gly