Canonical Allele Identifier: CA430324379

Gene: COL5A2

Linked Data

• ClinVar Variation Id: 1135457
• ClinVar RCV Id: RCV002240449
• dbSNP Id: rs1686065633
• MyVariant Identifiers: chr2:g.189927597G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062871G>A , CM000664.2:g.189062871G>A	GRCh38
NC_000002.11:g.189927597G>A , CM000664.1:g.189927597G>A	GRCh37
NC_000002.10:g.189635842G>A	NCBI36
NG_011799.1:g.122009C>T
NG_011799.2:g.122009C>T
NG_011799.3:g.167431C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1971C>T MANE Select	ENSP00000364000.3:p.Gly657=
ENST00000374866.7:c.1971C>T	ENSP00000364000.3:p.Gly657=
ENST00000470524.2:n.77C>T
ENST00000618828.1:c.810C>T	ENSP00000482184.1:p.Gly270=
NM_000393.3:c.1971C>T	NP_000384.2:p.Gly657=
XM_011510573.1:c.1833C>T	XP_011508875.1:p.Gly611=
NM_000393.4:c.1971C>T	NP_000384.2:p.Gly657=
XM_011510573.3:c.1833C>T	XP_011508875.1:p.Gly611=
NM_000393.5:c.1971C>T MANE Select	NP_000384.2:p.Gly657=