Canonical Allele Identifier: CA363582504

Gene: TAP2

Linked Data

• ClinVar Variation Id: 534707
• ClinVar RCV Id: RCV000642359
• dbSNP Id: rs1222208628
• gnomAD v3: 6-32832332-C-T
• gnomAD v4: 6-32832332-C-T
• MyVariant Identifiers: chr6:g.32800109C>T (hg19) ; chr6:g.32832332C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32832332C>T , CM000668.2:g.32832332C>T	GRCh38
NC_000006.11:g.32800109C>T , CM000668.1:g.32800109C>T	GRCh37
NC_000006.10:g.32908087C>T	NCBI36
NG_009793.3:g.11439G>A
NG_009793.4:g.11439G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485701.2:n.3676G>A
ENST00000698440.1:c.1272+1G>A	ENSP00000513722.1:n.1272+1G>A
ENST00000698441.1:c.1272+1G>A	ENSP00000513723.1:n.1272+1G>A
ENST00000698448.1:c.1272+1G>A	ENSP00000513733.1:n.1272+1G>A
ENST00000698449.1:c.1272+1G>A	ENSP00000513734.1:n.1272+1G>A
ENST00000705716.1:c.1272+1G>A	ENSP00000516164.1:n.1272+1G>A
ENST00000374897.4:c.1272+1G>A MANE Select	ENSP00000364032.3:n.1272+1G>A
ENST00000652259.1:c.1272+1G>A	ENSP00000498827.1:n.1272+1G>A
ENST00000374897.2:c.1272+1G>A	ENSP00000364032.2:n.1272+1G>A
ENST00000374899.8:c.1272+1G>A	ENSP00000364034.4:n.1272+1G>A
ENST00000452392.2:c.1272+1G>A	ENSP00000391806.2:n.1272+1G>A
ENST00000485701.1:n.237G>A
ENST00000620123.4:c.1272+1G>A	ENSP00000481712.1:n.1272+1G>A
NM_001290043.1:c.1272+1G>A	NP_001276972.1:n.1272+1G>A
NM_018833.2:c.1272+1G>A	NP_061313.2:n.1272+1G>A
NM_001290043.2:c.1272+1G>A MANE Select	NP_001276972.1:n.1272+1G>A
NM_018833.3:c.1272+1G>A	NP_061313.2:n.1272+1G>A