Canonical Allele Identifier: CA3745970

Gene: TAP2

Linked Data

• ClinVar Variation Id: 2174842
• ClinVar RCV Id: RCV002588192 ; RCV003434577
• dbSNP Id: rs569356622
• ExAC: 6:32800192 T / C
• gnomAD v2: 6-32800192-T-C
• gnomAD v3: 6-32832415-T-C
• gnomAD v4: 6-32832415-T-C
• MyVariant Identifiers: chr6:g.32800192T>C (hg19) ; chr6:g.32832415T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32832415T>C , CM000668.2:g.32832415T>C	GRCh38
NC_000006.11:g.32800192T>C , CM000668.1:g.32800192T>C	GRCh37
NC_000006.10:g.32908170T>C	NCBI36
NG_009793.3:g.11356A>G
NG_009793.4:g.11356A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485701.2:n.3593A>G
ENST00000698440.1:c.1190A>G	ENSP00000513722.1:p.Gln397Arg
ENST00000698441.1:c.1190A>G	ENSP00000513723.1:p.Gln397Arg
ENST00000698448.1:c.1190A>G	ENSP00000513733.1:p.Gln397Arg
ENST00000698449.1:c.1190A>G	ENSP00000513734.1:p.Gln397Arg
ENST00000705716.1:c.1190A>G	ENSP00000516164.1:p.Gln397Arg
ENST00000374897.4:c.1190A>G MANE Select	ENSP00000364032.3:p.Gln397Arg
ENST00000652259.1:c.1190A>G	ENSP00000498827.1:p.Gln397Arg
ENST00000374897.2:c.1190A>G	ENSP00000364032.2:p.Gln397Arg
ENST00000374899.8:c.1190A>G	ENSP00000364034.4:p.Gln397Arg
ENST00000452392.2:c.1190A>G	ENSP00000391806.2:p.Gln397Arg
ENST00000485701.1:n.154A>G
ENST00000620123.4:c.1190A>G	ENSP00000481712.1:p.Gln397Arg
NM_001290043.1:c.1190A>G	NP_001276972.1:p.Gln397Arg
NM_018833.2:c.1190A>G	NP_061313.2:p.Gln397Arg
NM_001290043.2:c.1190A>G MANE Select	NP_001276972.1:p.Gln397Arg
NM_018833.3:c.1190A>G	NP_061313.2:p.Gln397Arg