Canonical Allele Identifier: CA363582532

Gene: TAP2

Linked Data

• ClinVar Variation Id: 1484086
• ClinVar RCV Id: RCV002037980
• dbSNP Id: rs2127358422
• MyVariant Identifiers: chr6:g.32800115C>T (hg19) ; chr6:g.32832338C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485701.2:n.3670G>A
ENST00000698440.1:c.1267G>A	ENSP00000513722.1:p.Val423Met
ENST00000698441.1:c.1267G>A	ENSP00000513723.1:p.Val423Met
ENST00000698448.1:c.1267G>A	ENSP00000513733.1:p.Val423Met
ENST00000698449.1:c.1267G>A	ENSP00000513734.1:p.Val423Met
ENST00000705716.1:c.1267G>A	ENSP00000516164.1:p.Val423Met
ENST00000374897.4:c.1267G>A MANE Select	ENSP00000364032.3:p.Val423Met
ENST00000652259.1:c.1267G>A	ENSP00000498827.1:p.Val423Met
ENST00000374897.2:c.1267G>A	ENSP00000364032.2:p.Val423Met
ENST00000374899.8:c.1267G>A	ENSP00000364034.4:p.Val423Met
ENST00000452392.2:c.1267G>A	ENSP00000391806.2:p.Val423Met
ENST00000485701.1:n.231G>A
ENST00000620123.4:c.1267G>A	ENSP00000481712.1:p.Val423Met
NM_001290043.1:c.1267G>A	NP_001276972.1:p.Val423Met
NM_018833.2:c.1267G>A	NP_061313.2:p.Val423Met
NM_001290043.2:c.1267G>A MANE Select	NP_001276972.1:p.Val423Met
NM_018833.3:c.1267G>A	NP_061313.2:p.Val423Met