Canonical Allele Identifier: CA2689596888
Gene: CDKN2A HGNC NCBI

Linked Data

gnomAD v4: 9-21968063-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21968063A>C , CM000671.2:g.21968063A>C GRCh38
NC_000009.11:g.21968062A>C , CM000671.1:g.21968062A>C GRCh37
NC_000009.10:g.21958062A>C NCBI36
NG_007485.1:g.31429T>G , LRG_11:g.31429T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.*166T>G MANE Select ENSP00000307101.5:n.*166T>G
ENST00000404796.3:c.348-61370A>C ENSP00000385916.2:n.348-61370A>C
ENST00000579755.2:c.*281T>G MANE Plus Clinical ENSP00000462950.1:n.*281T>G
ENST00000304494.9:c.*166T>G ENSP00000307101.5:n.*166T>G
ENST00000361570.4:c.*166T>G ENSP00000355153.4:n.*166T>G
ENST00000404796.2:c.348-61370A>C ENSP00000385916.2:n.348-61370A>C
ENST00000498124.1:c.*330T>G ENSP00000418915.1:n.*330T>G
ENST00000530628.2:c.*207T>G ENSP00000432664.2:n.*207T>G
ENST00000578845.2:c.*166T>G ENSP00000467390.1:n.*166T>G
ENST00000579122.1:c.*146T>G ENSP00000464202.1:n.*146T>G
ENST00000579755.1:c.*281T>G ENSP00000462950.1:n.*281T>G
NM_000077.4:c.*166T>G , LRG_11t1:c.*166T>G NP_000068.1:n.*166T>G
NM_001195132.1:c.*330T>G NP_001182061.1:n.*330T>G
NM_058195.3:c.*281T>G , LRG_11t2:c.*281T>G NP_478102.2:n.*281T>G
NM_058197.4:c.911T>G NP_478104.2:n.911T>G
XM_005251343.1:c.*166T>G XP_005251400.1:n.*166T>G
XM_011517679.1:c.*166T>G XP_011515981.1:n.*166T>G
NM_001363763.1:c.*166T>G NP_001350692.1:n.*166T>G
NM_001363763.2:c.*166T>G NP_001350692.1:n.*166T>G
NM_000077.5:c.*166T>G MANE Select NP_000068.1:n.*166T>G
NM_001195132.2:c.*330T>G NP_001182061.1:n.*330T>G
NM_058195.4:c.*281T>G MANE Plus Clinical NP_478102.2:n.*281T>G
NM_058197.5:c.*560T>G NP_478104.2:n.*560T>G