Canonical Allele Identifier: CA2753575471

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189045911dup , CM000664.2:g.189045911dup	GRCh38
NC_000002.11:g.189910637dup , CM000664.1:g.189910637dup	GRCh37
NC_000002.10:g.189618882dup	NCBI36
NG_011799.1:g.138970dup
NG_011799.2:g.138970dup
NG_011799.3:g.184392dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.3202-3dup MANE Select	ENSP00000364000.3:n.3202-3dup
ENST00000374866.7:c.3202-3dup	ENSP00000364000.3:n.3202-3dup
ENST00000618828.1:c.2041-3dup	ENSP00000482184.1:n.2041-3dup
NM_000393.3:c.3202-3dup	NP_000384.2:n.3202-3dup
XM_011510573.1:c.3064-3dup	XP_011508875.1:n.3064-3dup
NM_000393.4:c.3202-3dup	NP_000384.2:n.3202-3dup
XM_011510573.3:c.3064-3dup	XP_011508875.1:n.3064-3dup
NM_000393.5:c.3202-3dup MANE Select	NP_000384.2:n.3202-3dup