Canonical Allele Identifier: CA2719025502
Gene: CDKN2A HGNC NCBI

Linked Data

dbSNP Id: rs2131078920

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21968164C>G , CM000671.2:g.21968164C>G GRCh38
NC_000009.11:g.21968163C>G , CM000671.1:g.21968163C>G GRCh37
NC_000009.10:g.21958163C>G NCBI36
NG_007485.1:g.31328G>C , LRG_11:g.31328G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.*65G>C MANE Select ENSP00000307101.5:n.*65G>C
ENST00000404796.3:c.348-61269C>G ENSP00000385916.2:n.348-61269C>G
ENST00000579755.2:c.*180G>C MANE Plus Clinical ENSP00000462950.1:n.*180G>C
ENST00000304494.9:c.*65G>C ENSP00000307101.5:n.*65G>C
ENST00000361570.4:c.*65G>C ENSP00000355153.4:n.*65G>C
ENST00000404796.2:c.348-61269C>G ENSP00000385916.2:n.348-61269C>G
ENST00000498124.1:c.*229G>C ENSP00000418915.1:n.*229G>C
ENST00000498628.6:c.*65G>C ENSP00000467857.1:n.*65G>C
ENST00000530628.2:c.*106G>C ENSP00000432664.2:n.*106G>C
ENST00000578845.2:c.*65G>C ENSP00000467390.1:n.*65G>C
ENST00000579122.1:c.*45G>C ENSP00000464202.1:n.*45G>C
ENST00000579755.1:c.*180G>C ENSP00000462950.1:n.*180G>C
NM_000077.4:c.*65G>C , LRG_11t1:c.*65G>C NP_000068.1:n.*65G>C
NM_001195132.1:c.*229G>C NP_001182061.1:n.*229G>C
NM_058195.3:c.*180G>C , LRG_11t2:c.*180G>C NP_478102.2:n.*180G>C
NM_058197.4:c.810G>C NP_478104.2:n.810G>C
XM_005251343.1:c.*65G>C XP_005251400.1:n.*65G>C
XM_011517679.1:c.*65G>C XP_011515981.1:n.*65G>C
NM_001363763.1:c.*65G>C NP_001350692.1:n.*65G>C
NM_001363763.2:c.*65G>C NP_001350692.1:n.*65G>C
NM_000077.5:c.*65G>C MANE Select NP_000068.1:n.*65G>C
NM_001195132.2:c.*229G>C NP_001182061.1:n.*229G>C
NM_058195.4:c.*180G>C MANE Plus Clinical NP_478102.2:n.*180G>C
NM_058197.5:c.*459G>C NP_478104.2:n.*459G>C