Canonical Allele Identifier: CA2538440093
Gene: CDKN2A HGNC NCBI

Linked Data

gnomAD v4: 9-21968086-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21968086C>T , CM000671.2:g.21968086C>T GRCh38
NC_000009.11:g.21968085C>T , CM000671.1:g.21968085C>T GRCh37
NC_000009.10:g.21958085C>T NCBI36
NG_007485.1:g.31406G>A , LRG_11:g.31406G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.*143G>A MANE Select ENSP00000307101.5:n.*143G>A
ENST00000404796.3:c.348-61347C>T ENSP00000385916.2:n.348-61347C>T
ENST00000579755.2:c.*258G>A MANE Plus Clinical ENSP00000462950.1:n.*258G>A
ENST00000304494.9:c.*143G>A ENSP00000307101.5:n.*143G>A
ENST00000361570.4:c.*143G>A ENSP00000355153.4:n.*143G>A
ENST00000404796.2:c.348-61347C>T ENSP00000385916.2:n.348-61347C>T
ENST00000498124.1:c.*307G>A ENSP00000418915.1:n.*307G>A
ENST00000530628.2:c.*184G>A ENSP00000432664.2:n.*184G>A
ENST00000578845.2:c.*143G>A ENSP00000467390.1:n.*143G>A
ENST00000579122.1:c.*123G>A ENSP00000464202.1:n.*123G>A
ENST00000579755.1:c.*258G>A ENSP00000462950.1:n.*258G>A
NM_000077.4:c.*143G>A , LRG_11t1:c.*143G>A NP_000068.1:n.*143G>A
NM_001195132.1:c.*307G>A NP_001182061.1:n.*307G>A
NM_058195.3:c.*258G>A , LRG_11t2:c.*258G>A NP_478102.2:n.*258G>A
NM_058197.4:c.888G>A NP_478104.2:n.888G>A
XM_005251343.1:c.*143G>A XP_005251400.1:n.*143G>A
XM_011517679.1:c.*143G>A XP_011515981.1:n.*143G>A
NM_001363763.1:c.*143G>A NP_001350692.1:n.*143G>A
NM_001363763.2:c.*143G>A NP_001350692.1:n.*143G>A
NM_000077.5:c.*143G>A MANE Select NP_000068.1:n.*143G>A
NM_001195132.2:c.*307G>A NP_001182061.1:n.*307G>A
NM_058195.4:c.*258G>A MANE Plus Clinical NP_478102.2:n.*258G>A
NM_058197.5:c.*537G>A NP_478104.2:n.*537G>A