Canonical Allele Identifier: CA430321258

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189910613C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189045887C>G , CM000664.2:g.189045887C>G	GRCh38
NC_000002.11:g.189910613C>G , CM000664.1:g.189910613C>G	GRCh37
NC_000002.10:g.189618858C>G	NCBI36
NG_011799.1:g.138993G>C
NG_011799.2:g.138993G>C
NG_011799.3:g.184415G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3222G>C MANE Select	ENSP00000364000.3:p.Gly1074=
ENST00000374866.7:c.3222G>C	ENSP00000364000.3:p.Gly1074=
ENST00000618828.1:c.2061G>C	ENSP00000482184.1:p.Gly687=
NM_000393.3:c.3222G>C	NP_000384.2:p.Gly1074=
XM_011510573.1:c.3084G>C	XP_011508875.1:p.Gly1028=
NM_000393.4:c.3222G>C	NP_000384.2:p.Gly1074=
XM_011510573.3:c.3084G>C	XP_011508875.1:p.Gly1028=
NM_000393.5:c.3222G>C MANE Select	NP_000384.2:p.Gly1074=