Canonical Allele Identifier: CA349876429

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189058892-C-A
• MyVariant Identifiers: chr2:g.189923618C>A (hg19) ; chr2:g.189058892C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058892C>A , CM000664.2:g.189058892C>A	GRCh38
NC_000002.11:g.189923618C>A , CM000664.1:g.189923618C>A	GRCh37
NC_000002.10:g.189631863C>A	NCBI36
NG_011799.1:g.125988G>T
NG_011799.2:g.125988G>T
NG_011799.3:g.171410G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2087G>T MANE Select	ENSP00000364000.3:p.Gly696Val
ENST00000374866.7:c.2087G>T	ENSP00000364000.3:p.Gly696Val
ENST00000470524.2:n.193G>T
ENST00000618828.1:c.926G>T	ENSP00000482184.1:p.Gly309Val
NM_000393.3:c.2087G>T	NP_000384.2:p.Gly696Val
XM_011510573.1:c.1949G>T	XP_011508875.1:p.Gly650Val
NM_000393.4:c.2087G>T	NP_000384.2:p.Gly696Val
XM_011510573.3:c.1949G>T	XP_011508875.1:p.Gly650Val
NM_000393.5:c.2087G>T MANE Select	NP_000384.2:p.Gly696Val