Canonical Allele Identifier: CA2689596916
Gene: CDKN2A HGNC NCBI

Linked Data

gnomAD v4: 9-21968093-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21968093T>G , CM000671.2:g.21968093T>G GRCh38
NC_000009.11:g.21968092T>G , CM000671.1:g.21968092T>G GRCh37
NC_000009.10:g.21958092T>G NCBI36
NG_007485.1:g.31399A>C , LRG_11:g.31399A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.*136A>C MANE Select ENSP00000307101.5:n.*136A>C
ENST00000404796.3:c.348-61340T>G ENSP00000385916.2:n.348-61340T>G
ENST00000579755.2:c.*251A>C MANE Plus Clinical ENSP00000462950.1:n.*251A>C
ENST00000304494.9:c.*136A>C ENSP00000307101.5:n.*136A>C
ENST00000361570.4:c.*136A>C ENSP00000355153.4:n.*136A>C
ENST00000404796.2:c.348-61340T>G ENSP00000385916.2:n.348-61340T>G
ENST00000498124.1:c.*300A>C ENSP00000418915.1:n.*300A>C
ENST00000530628.2:c.*177A>C ENSP00000432664.2:n.*177A>C
ENST00000578845.2:c.*136A>C ENSP00000467390.1:n.*136A>C
ENST00000579122.1:c.*116A>C ENSP00000464202.1:n.*116A>C
ENST00000579755.1:c.*251A>C ENSP00000462950.1:n.*251A>C
NM_000077.4:c.*136A>C , LRG_11t1:c.*136A>C NP_000068.1:n.*136A>C
NM_001195132.1:c.*300A>C NP_001182061.1:n.*300A>C
NM_058195.3:c.*251A>C , LRG_11t2:c.*251A>C NP_478102.2:n.*251A>C
NM_058197.4:c.881A>C NP_478104.2:n.881A>C
XM_005251343.1:c.*136A>C XP_005251400.1:n.*136A>C
XM_011517679.1:c.*136A>C XP_011515981.1:n.*136A>C
NM_001363763.1:c.*136A>C NP_001350692.1:n.*136A>C
NM_001363763.2:c.*136A>C NP_001350692.1:n.*136A>C
NM_000077.5:c.*136A>C MANE Select NP_000068.1:n.*136A>C
NM_001195132.2:c.*300A>C NP_001182061.1:n.*300A>C
NM_058195.4:c.*251A>C MANE Plus Clinical NP_478102.2:n.*251A>C
NM_058197.5:c.*530A>C NP_478104.2:n.*530A>C