Canonical Allele Identifier: CA430324435

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189927642T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062916T>C , CM000664.2:g.189062916T>C	GRCh38
NC_000002.11:g.189927642T>C , CM000664.1:g.189927642T>C	GRCh37
NC_000002.10:g.189635887T>C	NCBI36
NG_011799.1:g.121964A>G
NG_011799.2:g.121964A>G
NG_011799.3:g.167386A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1926A>G MANE Select	ENSP00000364000.3:p.Gly642=
ENST00000374866.7:c.1926A>G	ENSP00000364000.3:p.Gly642=
ENST00000470524.2:n.32A>G
ENST00000618828.1:c.765A>G	ENSP00000482184.1:p.Gly255=
NM_000393.3:c.1926A>G	NP_000384.2:p.Gly642=
XM_011510573.1:c.1788A>G	XP_011508875.1:p.Gly596=
NM_000393.4:c.1926A>G	NP_000384.2:p.Gly642=
XM_011510573.3:c.1788A>G	XP_011508875.1:p.Gly596=
NM_000393.5:c.1926A>G MANE Select	NP_000384.2:p.Gly642=