Canonical Allele Identifier: CA2719025089
Gene: CDKN2A HGNC NCBI

Linked Data

dbSNP Id: rs2131078796

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21968146G>A , CM000671.2:g.21968146G>A GRCh38
NC_000009.11:g.21968145G>A , CM000671.1:g.21968145G>A GRCh37
NC_000009.10:g.21958145G>A NCBI36
NG_007485.1:g.31346C>T , LRG_11:g.31346C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.*83C>T MANE Select ENSP00000307101.5:n.*83C>T
ENST00000404796.3:c.348-61287G>A ENSP00000385916.2:n.348-61287G>A
ENST00000579755.2:c.*198C>T MANE Plus Clinical ENSP00000462950.1:n.*198C>T
ENST00000304494.9:c.*83C>T ENSP00000307101.5:n.*83C>T
ENST00000361570.4:c.*83C>T ENSP00000355153.4:n.*83C>T
ENST00000404796.2:c.348-61287G>A ENSP00000385916.2:n.348-61287G>A
ENST00000498124.1:c.*247C>T ENSP00000418915.1:n.*247C>T
ENST00000498628.6:c.*83C>T ENSP00000467857.1:n.*83C>T
ENST00000530628.2:c.*124C>T ENSP00000432664.2:n.*124C>T
ENST00000578845.2:c.*83C>T ENSP00000467390.1:n.*83C>T
ENST00000579122.1:c.*63C>T ENSP00000464202.1:n.*63C>T
ENST00000579755.1:c.*198C>T ENSP00000462950.1:n.*198C>T
NM_000077.4:c.*83C>T , LRG_11t1:c.*83C>T NP_000068.1:n.*83C>T
NM_001195132.1:c.*247C>T NP_001182061.1:n.*247C>T
NM_058195.3:c.*198C>T , LRG_11t2:c.*198C>T NP_478102.2:n.*198C>T
NM_058197.4:c.828C>T NP_478104.2:n.828C>T
XM_005251343.1:c.*83C>T XP_005251400.1:n.*83C>T
XM_011517679.1:c.*83C>T XP_011515981.1:n.*83C>T
NM_001363763.1:c.*83C>T NP_001350692.1:n.*83C>T
NM_001363763.2:c.*83C>T NP_001350692.1:n.*83C>T
NM_000077.5:c.*83C>T MANE Select NP_000068.1:n.*83C>T
NM_001195132.2:c.*247C>T NP_001182061.1:n.*247C>T
NM_058195.4:c.*198C>T MANE Plus Clinical NP_478102.2:n.*198C>T
NM_058197.5:c.*477C>T NP_478104.2:n.*477C>T