Canonical Allele Identifier: CA1619754663

Gene: TAP2

Linked Data

• ClinVar Variation Id: 1443971
• ClinVar RCV Id: RCV001955789
• dbSNP Id: rs1769133149
• gnomAD v4: 6-32832344-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32832348del , CM000668.2:g.32832348del	GRCh38
NC_000006.11:g.32800125del , CM000668.1:g.32800125del	GRCh37
NC_000006.10:g.32908103del	NCBI36
NG_009793.3:g.11426del
NG_009793.4:g.11426del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485701.2:n.3663del
ENST00000698440.1:c.1260del	ENSP00000513722.1:p.Ser421AlafsTer?
ENST00000698441.1:c.1260del	ENSP00000513723.1:p.Ser421AlafsTer6
ENST00000698448.1:c.1260del	ENSP00000513733.1:p.Ser421AlafsTer?
ENST00000698449.1:c.1260del	ENSP00000513734.1:p.Ser421AlafsTer11
ENST00000705716.1:c.1260del	ENSP00000516164.1:p.Ser421AlafsTer?
ENST00000374897.4:c.1260del MANE Select	ENSP00000364032.3:p.Ser421AlafsTer?
ENST00000652259.1:c.1260del	ENSP00000498827.1:p.Ser421AlafsTer?
ENST00000374897.2:c.1260del	ENSP00000364032.2:p.Ser421AlafsTer?
ENST00000374899.8:c.1260del	ENSP00000364034.4:p.Ser421AlafsTer?
ENST00000452392.2:c.1260del	ENSP00000391806.2:p.Ser421AlafsTer?
ENST00000485701.1:n.224del
ENST00000620123.4:c.1260del	ENSP00000481712.1:p.Ser421AlafsTer?
NM_001290043.1:c.1260del	NP_001276972.1:p.Ser421AlafsTer?
NM_018833.2:c.1260del	NP_061313.2:p.Ser421AlafsTer?
NM_001290043.2:c.1260del MANE Select	NP_001276972.1:p.Ser421AlafsTer?
NM_018833.3:c.1260del	NP_061313.2:p.Ser421AlafsTer?