Canonical Allele Identifier: CA3745733
Gene: TAP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 403510
dbSNP Id: rs241448
gnomAD v2: 6-32796685-A-G
gnomAD v3: 6-32828908-A-G
gnomAD v4: 6-32828908-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32828908A>G , CM000668.2:g.32828908A>G GRCh38
NC_000006.11:g.32796685A>G , CM000668.1:g.32796685A>G GRCh37
NC_000006.10:g.32904663A>G NCBI36
NG_009793.4:g.14863T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000485701.2:n.5988T>C
ENST00000698440.1:c.2059T>C ENSP00000513722.1:p.Ter687Gln
ENST00000698441.1:c.1870T>C ENSP00000513723.1:p.Ter624Gln
ENST00000698448.1:c.2059T>C ENSP00000513733.1:p.Ter687Gln
ENST00000698449.1:c.2092T>C ENSP00000513734.1:p.Ter698Gln
ENST00000705716.1:c.2053T>C ENSP00000516164.1:p.Ter685Gln
ENST00000374897.4:c.2059T>C MANE Select ENSP00000364032.3:p.Ter687Gln
ENST00000652259.1:c.1932+492T>C ENSP00000498827.1:n.1932+492T>C
ENST00000374897.2:c.2059T>C ENSP00000364032.2:p.Ter687Gln
ENST00000374899.8:c.1932+492T>C ENSP00000364034.4:n.1932+492T>C
ENST00000452392.2:c.1932+492T>C ENSP00000391806.2:n.1932+492T>C
ENST00000620123.4:c.2058+1T>C ENSP00000481712.1:n.2058+1T>C
NM_001290043.1:c.2059T>C NP_001276972.1:p.Ter687Gln
NM_018833.2:c.1932+492T>C NP_061313.2:n.1932+492T>C
NM_001290043.2:c.2059T>C MANE Select NP_001276972.1:p.Ter687Gln
NM_018833.3:c.1932+492T>C NP_061313.2:n.1932+492T>C