Canonical Allele Identifier: CA538578273

Gene: C2orf88

Linked Data

• dbSNP Id: rs1280994902
• gnomAD v2: 2-190985689-A-G
• gnomAD v3: 2-190120963-A-G
• gnomAD v4: 2-190120963-A-G
• MyVariant Identifiers: chr2:g.190985689A>G (hg19) ; chr2:g.190120963A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190120963A>G , CM000664.2:g.190120963A>G	GRCh38
NC_000002.11:g.190985689A>G , CM000664.1:g.190985689A>G	GRCh37
NC_000002.10:g.190693934A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000450357.5:c.-290+29993A>G	ENSP00000394370.1:n.-290+29993A>G
ENST00000490033.5:n.226+25361A>G
ENST00000495546.1:n.271+40940A>G
XM_005246905.1:c.-290+40940A>G	XP_005246962.1:n.-290+40940A>G
XM_011511982.1:c.-290+29993A>G	XP_011510284.1:n.-290+29993A>G
XM_011511983.1:c.-290+25361A>G	XP_011510285.1:n.-290+25361A>G
XM_011511984.1:c.-290+25361A>G	XP_011510286.1:n.-290+25361A>G
XM_011511985.1:c.-290+29993A>G	XP_011510287.1:n.-290+29993A>G
XM_011511986.1:c.-165+40940A>G	XP_011510288.1:n.-165+40940A>G
XM_011511984.3:c.-290+25361A>G	XP_011510286.1:n.-290+25361A>G
XM_011511985.3:c.-290+29993A>G	XP_011510287.1:n.-290+29993A>G
XM_011511986.2:c.-165+40940A>G	XP_011510288.1:n.-165+40940A>G