Canonical Allele Identifier: CA62594835

Gene: COL5A2

Linked Data

• dbSNP Id: rs909419032
• gnomAD v3: 2-189050283-C-T
• gnomAD v4: 2-189050283-C-T
• MyVariant Identifiers: chr2:g.189915009C>T (hg19) ; chr2:g.189050283C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050283C>T , CM000664.2:g.189050283C>T	GRCh38
NC_000002.11:g.189915009C>T , CM000664.1:g.189915009C>T	GRCh37
NC_000002.10:g.189623254C>T	NCBI36
NG_011799.1:g.134597G>A
NG_011799.2:g.134597G>A
NG_011799.3:g.180019G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3039+286G>A MANE Select	ENSP00000364000.3:n.3039+286G>A
ENST00000374866.7:c.3039+286G>A	ENSP00000364000.3:n.3039+286G>A
ENST00000618828.1:c.1878+286G>A	ENSP00000482184.1:n.1878+286G>A
NM_000393.3:c.3039+286G>A	NP_000384.2:n.3039+286G>A
XM_011510573.1:c.2901+286G>A	XP_011508875.1:n.2901+286G>A
NM_000393.4:c.3039+286G>A	NP_000384.2:n.3039+286G>A
XM_011510573.3:c.2901+286G>A	XP_011508875.1:n.2901+286G>A
NM_000393.5:c.3039+286G>A MANE Select	NP_000384.2:n.3039+286G>A