Canonical Allele Identifier: CA1315418600

Gene: COL5A2

Linked Data

• dbSNP Id: rs1685651989
• gnomAD v4: 2-189045719-ATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189045728_189045729del , CM000664.2:g.189045728_189045729del	GRCh38
NC_000002.11:g.189910454_189910455del , CM000664.1:g.189910454_189910455del	GRCh37
NC_000002.10:g.189618699_189618700del	NCBI36
NG_011799.1:g.139159_139160del
NG_011799.2:g.139159_139160del
NG_011799.3:g.184581_184582del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3309+79_3309+80del MANE Select	ENSP00000364000.3:n.3309+79_3309+80del
ENST00000374866.7:c.3309+79_3309+80del	ENSP00000364000.3:n.3309+79_3309+80del
ENST00000618828.1:c.2148+79_2148+80del	ENSP00000482184.1:n.2148+79_2148+80del
NM_000393.3:c.3309+79_3309+80del	NP_000384.2:n.3309+79_3309+80del
XM_011510573.1:c.3171+79_3171+80del	XP_011508875.1:n.3171+79_3171+80del
NM_000393.4:c.3309+79_3309+80del	NP_000384.2:n.3309+79_3309+80del
XM_011510573.3:c.3171+79_3171+80del	XP_011508875.1:n.3171+79_3171+80del
NM_000393.5:c.3309+79_3309+80del MANE Select	NP_000384.2:n.3309+79_3309+80del