Canonical Allele Identifier: CA13046658
Gene: CDKN2B HGNC NCBI
CDKN2B-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.22003224C>T
GRCh37 chr9:g.22003223C>T
gnomAD v2:
9:22003223 C / T
gnomAD v3:
9:22003224 C / T
gnomAD v4:
chr9-22003224-C-T
Joint Max Group AF 0.51053696 (EAS)
Genomes Max Group AF 0.49860142 (EAS)
Exomes Max Group AF 0.51112474 (EAS)
ClinVar RCV:
RCV001003465
ClinVar Variation:
812647
dbSNP:
3217992
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.22003224C>T , CM000671.2:g.22003224C>T GRCh38
NC_000009.11:g.22003223C>T , CM000671.1:g.22003223C>T GRCh37
NC_000009.10:g.21993223C>T NCBI36
NG_023297.1:g.11090G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000276925.7:c.*2763G>A (CDKN2B) MANE Select ENSP00000276925.6:n.*2763G>A
ENST00000404796.3:c.348-26209C>T ENSP00000385916.2:n.348-26209C>T
ENST00000276925.6:c.*2763G>A (CDKN2B) ENSP00000276925.6:n.*2763G>A
ENST00000404796.2:c.348-26209C>T ENSP00000385916.2:n.348-26209C>T
NM_004936.3:c.*2763G>A (CDKN2B) NP_004927.2:n.*2763G>A
NM_078487.2:c.*3066G>A (CDKN2B) NP_511042.1:n.*3066G>A
NR_003529.3:n.371+8063C>T (CDKN2B-AS1)
NR_047532.1:n.371+8063C>T (CDKN2B-AS1)
NR_047533.1:n.371+8063C>T (CDKN2B-AS1)
NR_047534.1:n.371+8063C>T (CDKN2B-AS1)
NR_047535.1:n.371+8063C>T (CDKN2B-AS1)
NR_047536.1:n.371+8063C>T (CDKN2B-AS1)
NR_047537.1:n.371+8063C>T (CDKN2B-AS1)
NR_047538.1:n.371+8063C>T (CDKN2B-AS1)
NR_047539.1:n.371+8063C>T (CDKN2B-AS1)
NR_047540.1:n.371+8063C>T (CDKN2B-AS1)
NR_047541.1:n.371+8063C>T (CDKN2B-AS1)
NR_047542.1:n.371+8063C>T (CDKN2B-AS1)
NR_047543.1:n.371+8063C>T (CDKN2B-AS1)
NR_120536.1:n.371+8063C>T (CDKN2B-AS1)
NM_004936.4:c.*2763G>A (CDKN2B) MANE Select NP_004927.2:n.*2763G>A
Search 100 bp 5'
Search 100 bp 3'