Canonical Allele Identifier: CA2662313996

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189058601-G-GCTTCTA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058604_189058609dup , CM000664.2:g.189058604_189058609dup	GRCh38
NC_000002.11:g.189923330_189923335dup , CM000664.1:g.189923330_189923335dup	GRCh37
NC_000002.10:g.189631575_189631580dup	NCBI36
NG_011799.1:g.126273_126278dup
NG_011799.2:g.126273_126278dup
NG_011799.3:g.171695_171700dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2131-80_2131-75dup MANE Select	ENSP00000364000.3:n.2131-80_2131-75dup
ENST00000374866.7:c.2131-80_2131-75dup	ENSP00000364000.3:n.2131-80_2131-75dup
ENST00000470524.2:n.237-80_237-75dup
ENST00000618828.1:c.970-80_970-75dup	ENSP00000482184.1:n.970-80_970-75dup
NM_000393.3:c.2131-80_2131-75dup	NP_000384.2:n.2131-80_2131-75dup
XM_011510573.1:c.1993-80_1993-75dup	XP_011508875.1:n.1993-80_1993-75dup
NM_000393.4:c.2131-80_2131-75dup	NP_000384.2:n.2131-80_2131-75dup
XM_011510573.3:c.1993-80_1993-75dup	XP_011508875.1:n.1993-80_1993-75dup
NM_000393.5:c.2131-80_2131-75dup MANE Select	NP_000384.2:n.2131-80_2131-75dup