Canonical Allele Identifier: CA1315418996

Gene: COL5A2

Linked Data

• dbSNP Id: rs1685660247

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189046037_189046041del , CM000664.2:g.189046037_189046041del	GRCh38
NC_000002.11:g.189910763_189910767del , CM000664.1:g.189910763_189910767del	GRCh37
NC_000002.10:g.189619008_189619012del	NCBI36
NG_011799.1:g.138842_138846del
NG_011799.2:g.138842_138846del
NG_011799.3:g.184264_184268del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3202-131_3202-127del MANE Select	ENSP00000364000.3:n.3202-131_3202-127del
ENST00000374866.7:c.3202-131_3202-127del	ENSP00000364000.3:n.3202-131_3202-127del
ENST00000618828.1:c.2041-131_2041-127del	ENSP00000482184.1:n.2041-131_2041-127del
NM_000393.3:c.3202-131_3202-127del	NP_000384.2:n.3202-131_3202-127del
XM_011510573.1:c.3064-131_3064-127del	XP_011508875.1:n.3064-131_3064-127del
NM_000393.4:c.3202-131_3202-127del	NP_000384.2:n.3202-131_3202-127del
XM_011510573.3:c.3064-131_3064-127del	XP_011508875.1:n.3064-131_3064-127del
NM_000393.5:c.3202-131_3202-127del MANE Select	NP_000384.2:n.3202-131_3202-127del