Canonical Allele Identifier: CA2662313980

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189058575-A-ATTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058576_189058577insTTTT , CM000664.2:g.189058576_189058577insTTTT	GRCh38
NC_000002.11:g.189923302_189923303insTTTT , CM000664.1:g.189923302_189923303insTTTT	GRCh37
NC_000002.10:g.189631547_189631548insTTTT	NCBI36
NG_011799.1:g.126304_126305insAAAA
NG_011799.2:g.126304_126305insAAAA
NG_011799.3:g.171726_171727insAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2131-49_2131-48insAAAA MANE Select	ENSP00000364000.3:n.2131-49_2131-48insAAAA
ENST00000374866.7:c.2131-49_2131-48insAAAA	ENSP00000364000.3:n.2131-49_2131-48insAAAA
ENST00000470524.2:n.237-49_237-48insAAAA
ENST00000618828.1:c.970-49_970-48insAAAA	ENSP00000482184.1:n.970-49_970-48insAAAA
NM_000393.3:c.2131-49_2131-48insAAAA	NP_000384.2:n.2131-49_2131-48insAAAA
XM_011510573.1:c.1993-49_1993-48insAAAA	XP_011508875.1:n.1993-49_1993-48insAAAA
NM_000393.4:c.2131-49_2131-48insAAAA	NP_000384.2:n.2131-49_2131-48insAAAA
XM_011510573.3:c.1993-49_1993-48insAAAA	XP_011508875.1:n.1993-49_1993-48insAAAA
NM_000393.5:c.2131-49_2131-48insAAAA MANE Select	NP_000384.2:n.2131-49_2131-48insAAAA