Canonical Allele Identifier: CA373085011
Gene: CDKN2A HGNC NCBI

Linked Data

dbSNP Id: rs1819502692
gnomAD v4: 9-21968209-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21968209T>G , CM000671.2:g.21968209T>G GRCh38
NC_000009.11:g.21968208T>G , CM000671.1:g.21968208T>G GRCh37
NC_000009.10:g.21958208T>G NCBI36
NG_007485.1:g.31283A>C , LRG_11:g.31283A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.*20A>C MANE Select ENSP00000307101.5:n.*20A>C
ENST00000404796.3:c.348-61224T>G ENSP00000385916.2:n.348-61224T>G
ENST00000579755.2:c.*135A>C MANE Plus Clinical ENSP00000462950.1:n.*135A>C
ENST00000304494.9:c.*20A>C ENSP00000307101.5:n.*20A>C
ENST00000361570.4:c.*20A>C ENSP00000355153.4:n.*20A>C
ENST00000380151.3:c.765A>C ENSP00000369496.3:n.765A>C
ENST00000404796.2:c.348-61224T>G ENSP00000385916.2:n.348-61224T>G
ENST00000494262.5:c.*20A>C ENSP00000464952.1:n.*20A>C
ENST00000498124.1:c.*184A>C ENSP00000418915.1:n.*184A>C
ENST00000498628.6:c.*20A>C ENSP00000467857.1:n.*20A>C
ENST00000530628.2:c.*61A>C ENSP00000432664.2:n.*61A>C
ENST00000578845.2:c.*20A>C ENSP00000467390.1:n.*20A>C
ENST00000579122.1:c.417A>C ENSP00000464202.1:p.Ter139Cys
ENST00000579755.1:c.*135A>C ENSP00000462950.1:n.*135A>C
NM_000077.4:c.*20A>C , LRG_11t1:c.*20A>C NP_000068.1:n.*20A>C
NM_001195132.1:c.*184A>C NP_001182061.1:n.*184A>C
NM_058195.3:c.*135A>C , LRG_11t2:c.*135A>C NP_478102.2:n.*135A>C
NM_058197.4:c.765A>C NP_478104.2:n.765A>C
XM_005251343.1:c.*20A>C XP_005251400.1:n.*20A>C
XM_011517679.1:c.*20A>C XP_011515981.1:n.*20A>C
NM_001363763.1:c.*20A>C NP_001350692.1:n.*20A>C
NM_001363763.2:c.*20A>C NP_001350692.1:n.*20A>C
NM_000077.5:c.*20A>C MANE Select NP_000068.1:n.*20A>C
NM_001195132.2:c.*184A>C NP_001182061.1:n.*184A>C
NM_058195.4:c.*135A>C MANE Plus Clinical NP_478102.2:n.*135A>C
NM_058197.5:c.*414A>C NP_478104.2:n.*414A>C