Canonical Allele Identifier: CA1315428474

Gene: COL5A2

Linked Data

• dbSNP Id: rs1685955124

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058706_189058707dup , CM000664.2:g.189058706_189058707dup	GRCh38
NC_000002.11:g.189923432_189923433dup , CM000664.1:g.189923432_189923433dup	GRCh37
NC_000002.10:g.189631677_189631678dup	NCBI36
NG_011799.1:g.126175_126176dup
NG_011799.2:g.126175_126176dup
NG_011799.3:g.171597_171598dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2130+144_2130+145dup MANE Select	ENSP00000364000.3:n.2130+144_2130+145dup
ENST00000374866.7:c.2130+144_2130+145dup	ENSP00000364000.3:n.2130+144_2130+145dup
ENST00000470524.2:n.236+144_236+145dup
ENST00000618828.1:c.969+144_969+145dup	ENSP00000482184.1:n.969+144_969+145dup
NM_000393.3:c.2130+144_2130+145dup	NP_000384.2:n.2130+144_2130+145dup
XM_011510573.1:c.1992+144_1992+145dup	XP_011508875.1:n.1992+144_1992+145dup
NM_000393.4:c.2130+144_2130+145dup	NP_000384.2:n.2130+144_2130+145dup
XM_011510573.3:c.1992+144_1992+145dup	XP_011508875.1:n.1992+144_1992+145dup
NM_000393.5:c.2130+144_2130+145dup MANE Select	NP_000384.2:n.2130+144_2130+145dup