Canonical Allele Identifier: CA62578058

Gene: COL5A2

Linked Data

• dbSNP Id: rs34379007

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098687dup , CM000664.2:g.189098687dup	GRCh38
NC_000002.11:g.189963413dup , CM000664.1:g.189963413dup	GRCh37
NC_000002.10:g.189671658dup	NCBI36
NG_011799.1:g.86194dup
NG_011799.2:g.86194dup
NG_011799.3:g.131616dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.402+41dup MANE Select	ENSP00000364000.3:n.402+41dup
ENST00000649966.1:c.264+41dup	ENSP00000496785.1:n.264+41dup
ENST00000374866.7:c.402+41dup	ENSP00000364000.3:n.402+41dup
ENST00000618828.1:c.-229+41dup	ENSP00000482184.1:n.-229+41dup
NM_000393.3:c.402+41dup	NP_000384.2:n.402+41dup
XM_011510573.1:c.264+41dup	XP_011508875.1:n.264+41dup
NM_000393.4:c.402+41dup	NP_000384.2:n.402+41dup
XM_011510573.3:c.264+41dup	XP_011508875.1:n.264+41dup
NM_000393.5:c.402+41dup MANE Select	NP_000384.2:n.402+41dup