Canonical Allele Identifier: CA2662314065

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189058701-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058702del , CM000664.2:g.189058702del	GRCh38
NC_000002.11:g.189923428del , CM000664.1:g.189923428del	GRCh37
NC_000002.10:g.189631673del	NCBI36
NG_011799.1:g.126178del
NG_011799.2:g.126178del
NG_011799.3:g.171600del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2130+147del MANE Select	ENSP00000364000.3:n.2130+147del
ENST00000374866.7:c.2130+147del	ENSP00000364000.3:n.2130+147del
ENST00000470524.2:n.236+147del
ENST00000618828.1:c.969+147del	ENSP00000482184.1:n.969+147del
NM_000393.3:c.2130+147del	NP_000384.2:n.2130+147del
XM_011510573.1:c.1992+147del	XP_011508875.1:n.1992+147del
NM_000393.4:c.2130+147del	NP_000384.2:n.2130+147del
XM_011510573.3:c.1992+147del	XP_011508875.1:n.1992+147del
NM_000393.5:c.2130+147del MANE Select	NP_000384.2:n.2130+147del