Canonical Allele Identifier: CA2662313987

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189058583-AAAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058584_189058586del , CM000664.2:g.189058584_189058586del	GRCh38
NC_000002.11:g.189923310_189923312del , CM000664.1:g.189923310_189923312del	GRCh37
NC_000002.10:g.189631555_189631557del	NCBI36
NG_011799.1:g.126294_126296del
NG_011799.2:g.126294_126296del
NG_011799.3:g.171716_171718del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2131-59_2131-57del MANE Select	ENSP00000364000.3:n.2131-59_2131-57del
ENST00000374866.7:c.2131-59_2131-57del	ENSP00000364000.3:n.2131-59_2131-57del
ENST00000470524.2:n.237-59_237-57del
ENST00000618828.1:c.970-59_970-57del	ENSP00000482184.1:n.970-59_970-57del
NM_000393.3:c.2131-59_2131-57del	NP_000384.2:n.2131-59_2131-57del
XM_011510573.1:c.1993-59_1993-57del	XP_011508875.1:n.1993-59_1993-57del
NM_000393.4:c.2131-59_2131-57del	NP_000384.2:n.2131-59_2131-57del
XM_011510573.3:c.1993-59_1993-57del	XP_011508875.1:n.1993-59_1993-57del
NM_000393.5:c.2131-59_2131-57del MANE Select	NP_000384.2:n.2131-59_2131-57del