Canonical Allele Identifier: CA363582530
Gene: TAP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32832338C>A , CM000668.2:g.32832338C>A GRCh38
NC_000006.11:g.32800115C>A , CM000668.1:g.32800115C>A GRCh37
NC_000006.10:g.32908093C>A NCBI36
NG_009793.3:g.11433G>T
NG_009793.4:g.11433G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000485701.2:n.3670G>T
ENST00000698440.1:c.1267G>T ENSP00000513722.1:p.Val423Leu
ENST00000698441.1:c.1267G>T ENSP00000513723.1:p.Val423Leu
ENST00000698448.1:c.1267G>T ENSP00000513733.1:p.Val423Leu
ENST00000698449.1:c.1267G>T ENSP00000513734.1:p.Val423Leu
ENST00000705716.1:c.1267G>T ENSP00000516164.1:p.Val423Leu
ENST00000374897.4:c.1267G>T MANE Select ENSP00000364032.3:p.Val423Leu
ENST00000652259.1:c.1267G>T ENSP00000498827.1:p.Val423Leu
ENST00000374897.2:c.1267G>T ENSP00000364032.2:p.Val423Leu
ENST00000374899.8:c.1267G>T ENSP00000364034.4:p.Val423Leu
ENST00000452392.2:c.1267G>T ENSP00000391806.2:p.Val423Leu
ENST00000485701.1:n.231G>T
ENST00000620123.4:c.1267G>T ENSP00000481712.1:p.Val423Leu
NM_001290043.1:c.1267G>T NP_001276972.1:p.Val423Leu
NM_018833.2:c.1267G>T NP_061313.2:p.Val423Leu
NM_001290043.2:c.1267G>T MANE Select NP_001276972.1:p.Val423Leu
NM_018833.3:c.1267G>T NP_061313.2:p.Val423Leu