Canonical Allele Identifier: CA430442423

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189035012-G-A
• MyVariant Identifiers: chr2:g.189899738G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189035012G>A , CM000664.2:g.189035012G>A	GRCh38
NC_000002.11:g.189899738G>A , CM000664.1:g.189899738G>A	GRCh37
NC_000002.10:g.189607983G>A	NCBI36
NG_011799.1:g.149868C>T
NG_011799.2:g.149868C>T
NG_011799.3:g.195290C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.4257C>T MANE Select	ENSP00000364000.3:p.Leu1419=
ENST00000374866.7:c.4257C>T	ENSP00000364000.3:p.Leu1419=
ENST00000618828.1:c.3096C>T	ENSP00000482184.1:p.Leu1032=
NM_000393.3:c.4257C>T	NP_000384.2:p.Leu1419=
XM_011510573.1:c.4119C>T	XP_011508875.1:p.Leu1373=
NM_000393.4:c.4257C>T	NP_000384.2:p.Leu1419=
XM_011510573.3:c.4119C>T	XP_011508875.1:p.Leu1373=
NM_000393.5:c.4257C>T MANE Select	NP_000384.2:p.Leu1419=