Canonical Allele Identifier: CA862193500
Gene: CDKN2A HGNC NCBI

Linked Data

dbSNP Id: rs1284782651
gnomAD v4: 9-21968065-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21968065G>T , CM000671.2:g.21968065G>T GRCh38
NC_000009.11:g.21968064G>T , CM000671.1:g.21968064G>T GRCh37
NC_000009.10:g.21958064G>T NCBI36
NG_007485.1:g.31427C>A , LRG_11:g.31427C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.*164C>A MANE Select ENSP00000307101.5:n.*164C>A
ENST00000404796.3:c.348-61368G>T ENSP00000385916.2:n.348-61368G>T
ENST00000579755.2:c.*279C>A MANE Plus Clinical ENSP00000462950.1:n.*279C>A
ENST00000304494.9:c.*164C>A ENSP00000307101.5:n.*164C>A
ENST00000361570.4:c.*164C>A ENSP00000355153.4:n.*164C>A
ENST00000404796.2:c.348-61368G>T ENSP00000385916.2:n.348-61368G>T
ENST00000498124.1:c.*328C>A ENSP00000418915.1:n.*328C>A
ENST00000530628.2:c.*205C>A ENSP00000432664.2:n.*205C>A
ENST00000578845.2:c.*164C>A ENSP00000467390.1:n.*164C>A
ENST00000579122.1:c.*144C>A ENSP00000464202.1:n.*144C>A
ENST00000579755.1:c.*279C>A ENSP00000462950.1:n.*279C>A
NM_000077.4:c.*164C>A , LRG_11t1:c.*164C>A NP_000068.1:n.*164C>A
NM_001195132.1:c.*328C>A NP_001182061.1:n.*328C>A
NM_058195.3:c.*279C>A , LRG_11t2:c.*279C>A NP_478102.2:n.*279C>A
NM_058197.4:c.909C>A NP_478104.2:n.909C>A
XM_005251343.1:c.*164C>A XP_005251400.1:n.*164C>A
XM_011517679.1:c.*164C>A XP_011515981.1:n.*164C>A
NM_001363763.1:c.*164C>A NP_001350692.1:n.*164C>A
NM_001363763.2:c.*164C>A NP_001350692.1:n.*164C>A
NM_000077.5:c.*164C>A MANE Select NP_000068.1:n.*164C>A
NM_001195132.2:c.*328C>A NP_001182061.1:n.*328C>A
NM_058195.4:c.*279C>A MANE Plus Clinical NP_478102.2:n.*279C>A
NM_058197.5:c.*558C>A NP_478104.2:n.*558C>A