Canonical Allele Identifier: CA916734512

Gene: COL5A2

Linked Data

• dbSNP Id: rs1559077007

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189046040del , CM000664.2:g.189046040del	GRCh38
NC_000002.11:g.189910766del , CM000664.1:g.189910766del	GRCh37
NC_000002.10:g.189619011del	NCBI36
NG_011799.1:g.138843del
NG_011799.2:g.138843del
NG_011799.3:g.184265del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3202-130del MANE Select	ENSP00000364000.3:n.3202-130del
ENST00000374866.7:c.3202-130del	ENSP00000364000.3:n.3202-130del
ENST00000618828.1:c.2041-130del	ENSP00000482184.1:n.2041-130del
NM_000393.3:c.3202-130del	NP_000384.2:n.3202-130del
XM_011510573.1:c.3064-130del	XP_011508875.1:n.3064-130del
NM_000393.4:c.3202-130del	NP_000384.2:n.3202-130del
XM_011510573.3:c.3064-130del	XP_011508875.1:n.3064-130del
NM_000393.5:c.3202-130del MANE Select	NP_000384.2:n.3202-130del