Canonical Allele Identifier: CA2580592780
Community Standard Title: NM_001290043.2(TAP2):c.*457C>A
Gene: TAP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32828449G>T , CM000668.2:g.32828449G>T GRCh38
NC_000006.11:g.32796226G>T , CM000668.1:g.32796226G>T GRCh37
NC_000006.10:g.32904204G>T NCBI36
NG_009793.3:g.15322C>A
NG_009793.4:g.15322C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001290043.2:c.*457C>A MANE Select NP_001276972.1:n.*457C>A
ENST00000374897.4:c.*457C>A MANE Select ENSP00000364032.3:n.*457C>A
NM_001290043.1:c.*457C>A NP_001276972.1:n.*457C>A
NM_018833.2:c.1932+951C>A NP_061313.2:n.1932+951C>A
NM_018833.3:c.1932+951C>A NP_061313.2:n.1932+951C>A
ENST00000374897.2:c.*457C>A ENSP00000364032.2:n.*457C>A
ENST00000374899.8:c.1932+951C>A ENSP00000364034.4:n.1932+951C>A
ENST00000452392.2:c.1932+951C>A ENSP00000391806.2:n.1932+951C>A
ENST00000620123.4:c.*406C>A ENSP00000481712.1:n.*406C>A
ENST00000652259.1:c.1932+951C>A ENSP00000498827.1:n.1932+951C>A
ENST00000698440.1:c.*457C>A ENSP00000513722.1:n.*457C>A
ENST00000698441.1:c.*457C>A ENSP00000513723.1:n.*457C>A
ENST00000698448.1:c.*457C>A ENSP00000513733.1:n.*457C>A
ENST00000705716.1:c.*457C>A ENSP00000516164.1:n.*457C>A