Canonical Allele Identifier: CA12368352
Gene: TAP2 HGNC NCBI

Linked Data

dbSNP Id: rs2857103
gnomAD v2: 6-32791299-C-A
gnomAD v3: 6-32823522-C-A
gnomAD v4: 6-32823522-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32823522C>A , CM000668.2:g.32823522C>A GRCh38
NC_000006.11:g.32791299C>A , CM000668.1:g.32791299C>A GRCh37
NC_000006.10:g.32899277C>A NCBI36
NG_009793.3:g.20249G>T
NG_009793.4:g.20249G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000652259.1:c.1933-1204G>T ENSP00000498827.1:n.1933-1204G>T
ENST00000374899.8:c.1933-1204G>T ENSP00000364034.4:n.1933-1204G>T
ENST00000452392.2:c.1932+5878G>T ENSP00000391806.2:n.1932+5878G>T
NM_018833.2:c.1933-1204G>T NP_061313.2:n.1933-1204G>T
NM_018833.3:c.1933-1204G>T NP_061313.2:n.1933-1204G>T