Canonical Allele Identifier: CA430322185

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189050644-C-A
• MyVariant Identifiers: chr2:g.189915370C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050644C>A , CM000664.2:g.189050644C>A	GRCh38
NC_000002.11:g.189915370C>A , CM000664.1:g.189915370C>A	GRCh37
NC_000002.10:g.189623615C>A	NCBI36
NG_011799.1:g.134236G>T
NG_011799.2:g.134236G>T
NG_011799.3:g.179658G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.2964G>T MANE Select	ENSP00000364000.3:p.Thr988=
ENST00000374866.7:c.2964G>T	ENSP00000364000.3:p.Thr988=
ENST00000618828.1:c.1803G>T	ENSP00000482184.1:p.Thr601=
NM_000393.3:c.2964G>T	NP_000384.2:p.Thr988=
XM_011510573.1:c.2826G>T	XP_011508875.1:p.Thr942=
NM_000393.4:c.2964G>T	NP_000384.2:p.Thr988=
XM_011510573.3:c.2826G>T	XP_011508875.1:p.Thr942=
NM_000393.5:c.2964G>T MANE Select	NP_000384.2:p.Thr988=