Canonical Allele Identifier: CA2022443

Gene: COL5A2

Linked Data

• dbSNP Id: rs769439299
• ExAC: 2:189923595 C / T
• gnomAD v2: 2-189923595-C-T
• gnomAD v4: 2-189058869-C-T
• MyVariant Identifiers: chr2:g.189923595C>T (hg19) ; chr2:g.189058869C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058869C>T , CM000664.2:g.189058869C>T	GRCh38
NC_000002.11:g.189923595C>T , CM000664.1:g.189923595C>T	GRCh37
NC_000002.10:g.189631840C>T	NCBI36
NG_011799.1:g.126011G>A
NG_011799.2:g.126011G>A
NG_011799.3:g.171433G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2110G>A MANE Select	ENSP00000364000.3:p.Val704Ile
ENST00000374866.7:c.2110G>A	ENSP00000364000.3:p.Val704Ile
ENST00000470524.2:n.216G>A
ENST00000618828.1:c.949G>A	ENSP00000482184.1:p.Val317Ile
NM_000393.3:c.2110G>A	NP_000384.2:p.Val704Ile
XM_011510573.1:c.1972G>A	XP_011508875.1:p.Val658Ile
NM_000393.4:c.2110G>A	NP_000384.2:p.Val704Ile
XM_011510573.3:c.1972G>A	XP_011508875.1:p.Val658Ile
NM_000393.5:c.2110G>A MANE Select	NP_000384.2:p.Val704Ile