Canonical Allele Identifier: CA586896155
Gene: CDKN2A HGNC NCBI

Linked Data

dbSNP Id: rs1365888571
gnomAD v2: 9-21968124-A-G
gnomAD v4: 9-21968125-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21968125A>G , CM000671.2:g.21968125A>G GRCh38
NC_000009.11:g.21968124A>G , CM000671.1:g.21968124A>G GRCh37
NC_000009.10:g.21958124A>G NCBI36
NG_007485.1:g.31367T>C , LRG_11:g.31367T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.*104T>C MANE Select ENSP00000307101.5:n.*104T>C
ENST00000404796.3:c.348-61308A>G ENSP00000385916.2:n.348-61308A>G
ENST00000579755.2:c.*219T>C MANE Plus Clinical ENSP00000462950.1:n.*219T>C
ENST00000304494.9:c.*104T>C ENSP00000307101.5:n.*104T>C
ENST00000361570.4:c.*104T>C ENSP00000355153.4:n.*104T>C
ENST00000404796.2:c.348-61308A>G ENSP00000385916.2:n.348-61308A>G
ENST00000498124.1:c.*268T>C ENSP00000418915.1:n.*268T>C
ENST00000498628.6:c.*104T>C ENSP00000467857.1:n.*104T>C
ENST00000530628.2:c.*145T>C ENSP00000432664.2:n.*145T>C
ENST00000578845.2:c.*104T>C ENSP00000467390.1:n.*104T>C
ENST00000579122.1:c.*84T>C ENSP00000464202.1:n.*84T>C
ENST00000579755.1:c.*219T>C ENSP00000462950.1:n.*219T>C
NM_000077.4:c.*104T>C , LRG_11t1:c.*104T>C NP_000068.1:n.*104T>C
NM_001195132.1:c.*268T>C NP_001182061.1:n.*268T>C
NM_058195.3:c.*219T>C , LRG_11t2:c.*219T>C NP_478102.2:n.*219T>C
NM_058197.4:c.849T>C NP_478104.2:n.849T>C
XM_005251343.1:c.*104T>C XP_005251400.1:n.*104T>C
XM_011517679.1:c.*104T>C XP_011515981.1:n.*104T>C
NM_001363763.1:c.*104T>C NP_001350692.1:n.*104T>C
NM_001363763.2:c.*104T>C NP_001350692.1:n.*104T>C
NM_000077.5:c.*104T>C MANE Select NP_000068.1:n.*104T>C
NM_001195132.2:c.*268T>C NP_001182061.1:n.*268T>C
NM_058195.4:c.*219T>C MANE Plus Clinical NP_478102.2:n.*219T>C
NM_058197.5:c.*498T>C NP_478104.2:n.*498T>C