Canonical Allele Identifier: CA1315428430

Gene: COL5A2

Linked Data

• dbSNP Id: rs1685952528
• gnomAD v4: 2-189058603-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058605_189058606del , CM000664.2:g.189058605_189058606del	GRCh38
NC_000002.11:g.189923331_189923332del , CM000664.1:g.189923331_189923332del	GRCh37
NC_000002.10:g.189631576_189631577del	NCBI36
NG_011799.1:g.126275_126276del
NG_011799.2:g.126275_126276del
NG_011799.3:g.171697_171698del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2131-78_2131-77del MANE Select	ENSP00000364000.3:n.2131-78_2131-77del
ENST00000374866.7:c.2131-78_2131-77del	ENSP00000364000.3:n.2131-78_2131-77del
ENST00000470524.2:n.237-78_237-77del
ENST00000618828.1:c.970-78_970-77del	ENSP00000482184.1:n.970-78_970-77del
NM_000393.3:c.2131-78_2131-77del	NP_000384.2:n.2131-78_2131-77del
XM_011510573.1:c.1993-78_1993-77del	XP_011508875.1:n.1993-78_1993-77del
NM_000393.4:c.2131-78_2131-77del	NP_000384.2:n.2131-78_2131-77del
XM_011510573.3:c.1993-78_1993-77del	XP_011508875.1:n.1993-78_1993-77del
NM_000393.5:c.2131-78_2131-77del MANE Select	NP_000384.2:n.2131-78_2131-77del