Canonical Allele Identifier: CA1315430310

Gene: COL5A2

Linked Data

• dbSNP Id: rs1686062348
• gnomAD v4: 2-189062816-A-ATG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062822_189062823dup , CM000664.2:g.189062822_189062823dup	GRCh38
NC_000002.11:g.189927548_189927549dup , CM000664.1:g.189927548_189927549dup	GRCh37
NC_000002.10:g.189635793_189635794dup	NCBI36
NG_011799.1:g.122062_122063dup
NG_011799.2:g.122062_122063dup
NG_011799.3:g.167484_167485dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1977+47_1977+48dup MANE Select	ENSP00000364000.3:n.1977+47_1977+48dup
ENST00000374866.7:c.1977+47_1977+48dup	ENSP00000364000.3:n.1977+47_1977+48dup
ENST00000470524.2:n.83+47_83+48dup
ENST00000618828.1:c.816+47_816+48dup	ENSP00000482184.1:n.816+47_816+48dup
NM_000393.3:c.1977+47_1977+48dup	NP_000384.2:n.1977+47_1977+48dup
XM_011510573.1:c.1839+47_1839+48dup	XP_011508875.1:n.1839+47_1839+48dup
NM_000393.4:c.1977+47_1977+48dup	NP_000384.2:n.1977+47_1977+48dup
XM_011510573.3:c.1839+47_1839+48dup	XP_011508875.1:n.1839+47_1839+48dup
NM_000393.5:c.1977+47_1977+48dup MANE Select	NP_000384.2:n.1977+47_1977+48dup