Canonical Allele Identifier: CA2689596805
Gene: CDKN2A HGNC NCBI

Linked Data

gnomAD v4: 9-21967989-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21967989G>T , CM000671.2:g.21967989G>T GRCh38
NC_000009.11:g.21967988G>T , CM000671.1:g.21967988G>T GRCh37
NC_000009.10:g.21957988G>T NCBI36
NG_007485.1:g.31503C>A , LRG_11:g.31503C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.*240C>A MANE Select ENSP00000307101.5:n.*240C>A
ENST00000404796.3:c.348-61444G>T ENSP00000385916.2:n.348-61444G>T
ENST00000579755.2:c.*355C>A MANE Plus Clinical ENSP00000462950.1:n.*355C>A
ENST00000304494.9:c.*240C>A ENSP00000307101.5:n.*240C>A
ENST00000361570.4:c.*240C>A ENSP00000355153.4:n.*240C>A
ENST00000404796.2:c.348-61444G>T ENSP00000385916.2:n.348-61444G>T
ENST00000579755.1:c.*355C>A ENSP00000462950.1:n.*355C>A
NM_000077.4:c.*240C>A , LRG_11t1:c.*240C>A NP_000068.1:n.*240C>A
NM_001195132.1:c.*404C>A NP_001182061.1:n.*404C>A
NM_058195.3:c.*355C>A , LRG_11t2:c.*355C>A NP_478102.2:n.*355C>A
NM_058197.4:c.985C>A NP_478104.2:n.985C>A
XM_005251343.1:c.*240C>A XP_005251400.1:n.*240C>A
XM_011517679.1:c.*240C>A XP_011515981.1:n.*240C>A
NM_001363763.1:c.*240C>A NP_001350692.1:n.*240C>A
NM_001363763.2:c.*240C>A NP_001350692.1:n.*240C>A
NM_000077.5:c.*240C>A MANE Select NP_000068.1:n.*240C>A
NM_001195132.2:c.*404C>A NP_001182061.1:n.*404C>A
NM_058195.4:c.*355C>A MANE Plus Clinical NP_478102.2:n.*355C>A
NM_058197.5:c.*634C>A NP_478104.2:n.*634C>A