Canonical Allele Identifier: CA2022503

Gene: COL5A2

Linked Data

• dbSNP Id: rs749043932
• ExAC: 2:189927564 A / T
• gnomAD v2: 2-189927564-A-T
• gnomAD v4: 2-189062838-A-T
• MyVariant Identifiers: chr2:g.189927564A>T (hg19) ; chr2:g.189062838A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062838A>T , CM000664.2:g.189062838A>T	GRCh38
NC_000002.11:g.189927564A>T , CM000664.1:g.189927564A>T	GRCh37
NC_000002.10:g.189635809A>T	NCBI36
NG_011799.1:g.122042T>A
NG_011799.2:g.122042T>A
NG_011799.3:g.167464T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1977+27T>A MANE Select	ENSP00000364000.3:n.1977+27T>A
ENST00000374866.7:c.1977+27T>A	ENSP00000364000.3:n.1977+27T>A
ENST00000470524.2:n.83+27T>A
ENST00000618828.1:c.816+27T>A	ENSP00000482184.1:n.816+27T>A
NM_000393.3:c.1977+27T>A	NP_000384.2:n.1977+27T>A
XM_011510573.1:c.1839+27T>A	XP_011508875.1:n.1839+27T>A
NM_000393.4:c.1977+27T>A	NP_000384.2:n.1977+27T>A
XM_011510573.3:c.1839+27T>A	XP_011508875.1:n.1839+27T>A
NM_000393.5:c.1977+27T>A MANE Select	NP_000384.2:n.1977+27T>A