Canonical Allele Identifier: CA862183548
Gene: CDKN2A HGNC NCBI

Linked Data

dbSNP Id: rs566478701

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21989038C>A , CM000671.2:g.21989038C>A GRCh38
NC_000009.11:g.21989037C>A , CM000671.1:g.21989037C>A GRCh37
NC_000009.10:g.21979037C>A NCBI36
NG_007485.1:g.10454G>T , LRG_11:g.10454G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000404796.3:c.348-40395C>A ENSP00000385916.2:n.348-40395C>A
ENST00000579755.2:c.193+5101G>T MANE Plus Clinical ENSP00000462950.1:n.193+5101G>T
ENST00000361570.4:c.193+5101G>T ENSP00000355153.4:n.193+5101G>T
ENST00000404796.2:c.348-40395C>A ENSP00000385916.2:n.348-40395C>A
ENST00000494262.5:c.-4+4844G>T ENSP00000464952.1:n.-4+4844G>T
ENST00000498628.6:c.-4+5783G>T ENSP00000467857.1:n.-4+5783G>T
ENST00000530628.2:c.193+5101G>T ENSP00000432664.2:n.193+5101G>T
ENST00000579755.1:c.193+5101G>T ENSP00000462950.1:n.193+5101G>T
NM_058195.3:c.193+5101G>T , LRG_11t2:c.193+5101G>T NP_478102.2:n.193+5101G>T
XM_011517678.1:c.*892G>T XP_011515980.1:n.*892G>T
XM_011517679.1:c.-4+5783G>T XP_011515981.1:n.-4+5783G>T
XR_929161.1:n.340+5101G>T
XR_929162.1:n.340+5101G>T
XR_929163.1:n.289+5101G>T
NM_001363763.1:c.-4+5783G>T NP_001350692.1:n.-4+5783G>T
NM_001363763.2:c.-4+5783G>T NP_001350692.1:n.-4+5783G>T
NM_058195.4:c.193+5101G>T MANE Plus Clinical NP_478102.2:n.193+5101G>T