Canonical Allele Identifier: CA430321180

Gene: COL5A2

Linked Data

• dbSNP Id: rs1348656530
• gnomAD v2: 2-189910568-G-A
• gnomAD v4: 2-189045842-G-A
• MyVariant Identifiers: chr2:g.189910568G>A (hg19) ; chr2:g.189045842G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189045842G>A , CM000664.2:g.189045842G>A	GRCh38
NC_000002.11:g.189910568G>A , CM000664.1:g.189910568G>A	GRCh37
NC_000002.10:g.189618813G>A	NCBI36
NG_011799.1:g.139038C>T
NG_011799.2:g.139038C>T
NG_011799.3:g.184460C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3267C>T MANE Select	ENSP00000364000.3:p.Gly1089=
ENST00000374866.7:c.3267C>T	ENSP00000364000.3:p.Gly1089=
ENST00000618828.1:c.2106C>T	ENSP00000482184.1:p.Gly702=
NM_000393.3:c.3267C>T	NP_000384.2:p.Gly1089=
XM_011510573.1:c.3129C>T	XP_011508875.1:p.Gly1043=
NM_000393.4:c.3267C>T	NP_000384.2:p.Gly1089=
XM_011510573.3:c.3129C>T	XP_011508875.1:p.Gly1043=
NM_000393.5:c.3267C>T MANE Select	NP_000384.2:p.Gly1089=