Canonical Allele Identifier: CA2753586304

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058708_189058709insC , CM000664.2:g.189058708_189058709insC	GRCh38
NC_000002.11:g.189923434_189923435insC , CM000664.1:g.189923434_189923435insC	GRCh37
NC_000002.10:g.189631679_189631680insC	NCBI36
NG_011799.1:g.126171_126172insG
NG_011799.2:g.126171_126172insG
NG_011799.3:g.171593_171594insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2130+140_2130+141insG MANE Select	ENSP00000364000.3:n.2130+140_2130+141insG
ENST00000374866.7:c.2130+140_2130+141insG	ENSP00000364000.3:n.2130+140_2130+141insG
ENST00000470524.2:n.236+140_236+141insG
ENST00000618828.1:c.969+140_969+141insG	ENSP00000482184.1:n.969+140_969+141insG
NM_000393.3:c.2130+140_2130+141insG	NP_000384.2:n.2130+140_2130+141insG
XM_011510573.1:c.1992+140_1992+141insG	XP_011508875.1:n.1992+140_1992+141insG
NM_000393.4:c.2130+140_2130+141insG	NP_000384.2:n.2130+140_2130+141insG
XM_011510573.3:c.1992+140_1992+141insG	XP_011508875.1:n.1992+140_1992+141insG
NM_000393.5:c.2130+140_2130+141insG MANE Select	NP_000384.2:n.2130+140_2130+141insG