Canonical Allele Identifier: CA2753586308

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058739_189058740insGGT , CM000664.2:g.189058739_189058740insGGT	GRCh38
NC_000002.11:g.189923465_189923466insGGT , CM000664.1:g.189923465_189923466insGGT	GRCh37
NC_000002.10:g.189631710_189631711insGGT	NCBI36
NG_011799.1:g.126140_126141insACC
NG_011799.2:g.126140_126141insACC
NG_011799.3:g.171562_171563insACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2130+109_2130+110insACC MANE Select	ENSP00000364000.3:n.2130+109_2130+110insACC
ENST00000374866.7:c.2130+109_2130+110insACC	ENSP00000364000.3:n.2130+109_2130+110insACC
ENST00000470524.2:n.236+109_236+110insACC
ENST00000618828.1:c.969+109_969+110insACC	ENSP00000482184.1:n.969+109_969+110insACC
NM_000393.3:c.2130+109_2130+110insACC	NP_000384.2:n.2130+109_2130+110insACC
XM_011510573.1:c.1992+109_1992+110insACC	XP_011508875.1:n.1992+109_1992+110insACC
NM_000393.4:c.2130+109_2130+110insACC	NP_000384.2:n.2130+109_2130+110insACC
XM_011510573.3:c.1992+109_1992+110insACC	XP_011508875.1:n.1992+109_1992+110insACC
NM_000393.5:c.2130+109_2130+110insACC MANE Select	NP_000384.2:n.2130+109_2130+110insACC