Canonical Allele Identifier: CA363582528
Gene: TAP2 HGNC NCBI

Linked Data

dbSNP Id: rs1769132375

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32832337A>G , CM000668.2:g.32832337A>G GRCh38
NC_000006.11:g.32800114A>G , CM000668.1:g.32800114A>G GRCh37
NC_000006.10:g.32908092A>G NCBI36
NG_009793.3:g.11434T>C
NG_009793.4:g.11434T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000485701.2:n.3671T>C
ENST00000698440.1:c.1268T>C ENSP00000513722.1:p.Val423Ala
ENST00000698441.1:c.1268T>C ENSP00000513723.1:p.Val423Ala
ENST00000698448.1:c.1268T>C ENSP00000513733.1:p.Val423Ala
ENST00000698449.1:c.1268T>C ENSP00000513734.1:p.Val423Ala
ENST00000705716.1:c.1268T>C ENSP00000516164.1:p.Val423Ala
ENST00000374897.4:c.1268T>C MANE Select ENSP00000364032.3:p.Val423Ala
ENST00000652259.1:c.1268T>C ENSP00000498827.1:p.Val423Ala
ENST00000374897.2:c.1268T>C ENSP00000364032.2:p.Val423Ala
ENST00000374899.8:c.1268T>C ENSP00000364034.4:p.Val423Ala
ENST00000452392.2:c.1268T>C ENSP00000391806.2:p.Val423Ala
ENST00000485701.1:n.232T>C
ENST00000620123.4:c.1268T>C ENSP00000481712.1:p.Val423Ala
NM_001290043.1:c.1268T>C NP_001276972.1:p.Val423Ala
NM_018833.2:c.1268T>C NP_061313.2:p.Val423Ala
NM_001290043.2:c.1268T>C MANE Select NP_001276972.1:p.Val423Ala
NM_018833.3:c.1268T>C NP_061313.2:p.Val423Ala