Canonical Allele Identifier: CA2662314052

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189058677-TGAAGTAAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058678_189058686del , CM000664.2:g.189058678_189058686del	GRCh38
NC_000002.11:g.189923404_189923412del , CM000664.1:g.189923404_189923412del	GRCh37
NC_000002.10:g.189631649_189631657del	NCBI36
NG_011799.1:g.126194_126202del
NG_011799.2:g.126194_126202del
NG_011799.3:g.171616_171624del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2131-159_2131-151del MANE Select	ENSP00000364000.3:n.2131-159_2131-151del
ENST00000374866.7:c.2131-159_2131-151del	ENSP00000364000.3:n.2131-159_2131-151del
ENST00000470524.2:n.237-159_237-151del
ENST00000618828.1:c.970-159_970-151del	ENSP00000482184.1:n.970-159_970-151del
NM_000393.3:c.2131-159_2131-151del	NP_000384.2:n.2131-159_2131-151del
XM_011510573.1:c.1993-159_1993-151del	XP_011508875.1:n.1993-159_1993-151del
NM_000393.4:c.2131-159_2131-151del	NP_000384.2:n.2131-159_2131-151del
XM_011510573.3:c.1993-159_1993-151del	XP_011508875.1:n.1993-159_1993-151del
NM_000393.5:c.2131-159_2131-151del MANE Select	NP_000384.2:n.2131-159_2131-151del