Canonical Allele Identifier: CA2689596934
Gene: CDKN2A HGNC NCBI

Linked Data

dbSNP Id: rs2131078669
gnomAD v4: 9-21968126-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21968126C>T , CM000671.2:g.21968126C>T GRCh38
NC_000009.11:g.21968125C>T , CM000671.1:g.21968125C>T GRCh37
NC_000009.10:g.21958125C>T NCBI36
NG_007485.1:g.31366G>A , LRG_11:g.31366G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.*103G>A MANE Select ENSP00000307101.5:n.*103G>A
ENST00000404796.3:c.348-61307C>T ENSP00000385916.2:n.348-61307C>T
ENST00000579755.2:c.*218G>A MANE Plus Clinical ENSP00000462950.1:n.*218G>A
ENST00000304494.9:c.*103G>A ENSP00000307101.5:n.*103G>A
ENST00000361570.4:c.*103G>A ENSP00000355153.4:n.*103G>A
ENST00000404796.2:c.348-61307C>T ENSP00000385916.2:n.348-61307C>T
ENST00000498124.1:c.*267G>A ENSP00000418915.1:n.*267G>A
ENST00000498628.6:c.*103G>A ENSP00000467857.1:n.*103G>A
ENST00000530628.2:c.*144G>A ENSP00000432664.2:n.*144G>A
ENST00000578845.2:c.*103G>A ENSP00000467390.1:n.*103G>A
ENST00000579122.1:c.*83G>A ENSP00000464202.1:n.*83G>A
ENST00000579755.1:c.*218G>A ENSP00000462950.1:n.*218G>A
NM_000077.4:c.*103G>A , LRG_11t1:c.*103G>A NP_000068.1:n.*103G>A
NM_001195132.1:c.*267G>A NP_001182061.1:n.*267G>A
NM_058195.3:c.*218G>A , LRG_11t2:c.*218G>A NP_478102.2:n.*218G>A
NM_058197.4:c.848G>A NP_478104.2:n.848G>A
XM_005251343.1:c.*103G>A XP_005251400.1:n.*103G>A
XM_011517679.1:c.*103G>A XP_011515981.1:n.*103G>A
NM_001363763.1:c.*103G>A NP_001350692.1:n.*103G>A
NM_001363763.2:c.*103G>A NP_001350692.1:n.*103G>A
NM_000077.5:c.*103G>A MANE Select NP_000068.1:n.*103G>A
NM_001195132.2:c.*267G>A NP_001182061.1:n.*267G>A
NM_058195.4:c.*218G>A MANE Plus Clinical NP_478102.2:n.*218G>A
NM_058197.5:c.*497G>A NP_478104.2:n.*497G>A