Canonical Allele Identifier: CA2662313990

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189058593-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058593G>C , CM000664.2:g.189058593G>C	GRCh38
NC_000002.11:g.189923319G>C , CM000664.1:g.189923319G>C	GRCh37
NC_000002.10:g.189631564G>C	NCBI36
NG_011799.1:g.126287C>G
NG_011799.2:g.126287C>G
NG_011799.3:g.171709C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2131-66C>G MANE Select	ENSP00000364000.3:n.2131-66C>G
ENST00000374866.7:c.2131-66C>G	ENSP00000364000.3:n.2131-66C>G
ENST00000470524.2:n.237-66C>G
ENST00000618828.1:c.970-66C>G	ENSP00000482184.1:n.970-66C>G
NM_000393.3:c.2131-66C>G	NP_000384.2:n.2131-66C>G
XM_011510573.1:c.1993-66C>G	XP_011508875.1:n.1993-66C>G
NM_000393.4:c.2131-66C>G	NP_000384.2:n.2131-66C>G
XM_011510573.3:c.1993-66C>G	XP_011508875.1:n.1993-66C>G
NM_000393.5:c.2131-66C>G MANE Select	NP_000384.2:n.2131-66C>G