Canonical Allele Identifier: CA2689596906
Gene: CDKN2A HGNC NCBI

Linked Data

gnomAD v4: 9-21968085-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21968085G>C , CM000671.2:g.21968085G>C GRCh38
NC_000009.11:g.21968084G>C , CM000671.1:g.21968084G>C GRCh37
NC_000009.10:g.21958084G>C NCBI36
NG_007485.1:g.31407C>G , LRG_11:g.31407C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.*144C>G MANE Select ENSP00000307101.5:n.*144C>G
ENST00000404796.3:c.348-61348G>C ENSP00000385916.2:n.348-61348G>C
ENST00000579755.2:c.*259C>G MANE Plus Clinical ENSP00000462950.1:n.*259C>G
ENST00000304494.9:c.*144C>G ENSP00000307101.5:n.*144C>G
ENST00000361570.4:c.*144C>G ENSP00000355153.4:n.*144C>G
ENST00000404796.2:c.348-61348G>C ENSP00000385916.2:n.348-61348G>C
ENST00000498124.1:c.*308C>G ENSP00000418915.1:n.*308C>G
ENST00000530628.2:c.*185C>G ENSP00000432664.2:n.*185C>G
ENST00000578845.2:c.*144C>G ENSP00000467390.1:n.*144C>G
ENST00000579122.1:c.*124C>G ENSP00000464202.1:n.*124C>G
ENST00000579755.1:c.*259C>G ENSP00000462950.1:n.*259C>G
NM_000077.4:c.*144C>G , LRG_11t1:c.*144C>G NP_000068.1:n.*144C>G
NM_001195132.1:c.*308C>G NP_001182061.1:n.*308C>G
NM_058195.3:c.*259C>G , LRG_11t2:c.*259C>G NP_478102.2:n.*259C>G
NM_058197.4:c.889C>G NP_478104.2:n.889C>G
XM_005251343.1:c.*144C>G XP_005251400.1:n.*144C>G
XM_011517679.1:c.*144C>G XP_011515981.1:n.*144C>G
NM_001363763.1:c.*144C>G NP_001350692.1:n.*144C>G
NM_001363763.2:c.*144C>G NP_001350692.1:n.*144C>G
NM_000077.5:c.*144C>G MANE Select NP_000068.1:n.*144C>G
NM_001195132.2:c.*308C>G NP_001182061.1:n.*308C>G
NM_058195.4:c.*259C>G MANE Plus Clinical NP_478102.2:n.*259C>G
NM_058197.5:c.*538C>G NP_478104.2:n.*538C>G