Canonical Allele Identifier: CA3745994

Gene: TAP2

Linked Data

• dbSNP Id: rs754852132
• ExAC: 6:32800430 G / A
• gnomAD v2: 6-32800430-G-A
• gnomAD v3: 6-32832653-G-A
• gnomAD v4: 6-32832653-G-A
• MyVariant Identifiers: chr6:g.32800430G>A (hg19) ; chr6:g.32832653G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32832653G>A , CM000668.2:g.32832653G>A	GRCh38
NC_000006.11:g.32800430G>A , CM000668.1:g.32800430G>A	GRCh37
NC_000006.10:g.32908408G>A	NCBI36
NG_009793.3:g.11118C>T
NG_009793.4:g.11118C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485701.2:n.3520C>T
ENST00000698440.1:c.1117C>T	ENSP00000513722.1:p.Arg373Cys
ENST00000698441.1:c.1117C>T	ENSP00000513723.1:p.Arg373Cys
ENST00000698448.1:c.1117C>T	ENSP00000513733.1:p.Arg373Cys
ENST00000698449.1:c.1117C>T	ENSP00000513734.1:p.Arg373Cys
ENST00000705716.1:c.1117C>T	ENSP00000516164.1:p.Arg373Cys
ENST00000374897.4:c.1117C>T MANE Select	ENSP00000364032.3:p.Arg373Cys
ENST00000652259.1:c.1117C>T	ENSP00000498827.1:p.Arg373Cys
ENST00000374897.2:c.1117C>T	ENSP00000364032.2:p.Arg373Cys
ENST00000374899.8:c.1117C>T	ENSP00000364034.4:p.Arg373Cys
ENST00000452392.2:c.1117C>T	ENSP00000391806.2:p.Arg373Cys
ENST00000485701.1:n.81C>T
ENST00000620123.4:c.1117C>T	ENSP00000481712.1:p.Arg373Cys
NM_001290043.1:c.1117C>T	NP_001276972.1:p.Arg373Cys
NM_018833.2:c.1117C>T	NP_061313.2:p.Arg373Cys
NM_001290043.2:c.1117C>T MANE Select	NP_001276972.1:p.Arg373Cys
NM_018833.3:c.1117C>T	NP_061313.2:p.Arg373Cys