Canonical Allele Identifier: CA123397
Gene: TAP2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 13724
dbSNP Id: rs1800454

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32832635C>T , CM000668.2:g.32832635C>T GRCh38
NC_000006.11:g.32800412C>T , CM000668.1:g.32800412C>T GRCh37
NC_000006.10:g.32908390C>T NCBI36
NG_009793.3:g.11136G>A

Transcript Alleles

HGVS Amino-acid change
NM_000544.3:c.1135G>A VV NP_000535.3:p.Val379Ile
NM_001290043.1:c.1135G>A VV NP_001276972.1:p.Val379Ile
NM_018833.2:c.1135G>A VV NP_061313.2:p.Val379Ile
ENST00000374897.2:c.1135G>A ENSP00000364032.2:p.Val379Ile
ENST00000374899.8:c.1135G>A ENSP00000364034.4:p.Val379Ile
ENST00000452392.2:c.1135G>A ENSP00000391806.2:p.Val379Ile
ENST00000485701.1:n.99G>A
ENST00000620123.4:c.1135G>A ENSP00000481712.1:p.Val379Ile