Canonical Allele Identifier: CA2662317841

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189050775-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050775_189050776insC , CM000664.2:g.189050775_189050776insC	GRCh38
NC_000002.11:g.189915501_189915502insC , CM000664.1:g.189915501_189915502insC	GRCh37
NC_000002.10:g.189623746_189623747insC	NCBI36
NG_011799.1:g.134104_134105insG
NG_011799.2:g.134104_134105insG
NG_011799.3:g.179526_179527insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2932-100_2932-99insG MANE Select	ENSP00000364000.3:n.2932-100_2932-99insG
ENST00000374866.7:c.2932-100_2932-99insG	ENSP00000364000.3:n.2932-100_2932-99insG
ENST00000618828.1:c.1771-100_1771-99insG	ENSP00000482184.1:n.1771-100_1771-99insG
NM_000393.3:c.2932-100_2932-99insG	NP_000384.2:n.2932-100_2932-99insG
XM_011510573.1:c.2794-100_2794-99insG	XP_011508875.1:n.2794-100_2794-99insG
NM_000393.4:c.2932-100_2932-99insG	NP_000384.2:n.2932-100_2932-99insG
XM_011510573.3:c.2794-100_2794-99insG	XP_011508875.1:n.2794-100_2794-99insG
NM_000393.5:c.2932-100_2932-99insG MANE Select	NP_000384.2:n.2932-100_2932-99insG