Canonical Allele Identifier: CA15590429
Gene: CDKN2A HGNC NCBI

Linked Data

dbSNP Id: rs2811710
gnomAD v2: 9-21991923-C-T
gnomAD v3: 9-21991924-C-T
gnomAD v4: 9-21991924-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21991924C>T , CM000671.2:g.21991924C>T GRCh38
NC_000009.11:g.21991923C>T , CM000671.1:g.21991923C>T GRCh37
NC_000009.10:g.21981923C>T NCBI36
NG_007485.1:g.7568G>A , LRG_11:g.7568G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000404796.3:c.348-37509C>T ENSP00000385916.2:n.348-37509C>T
ENST00000579755.2:c.193+2215G>A MANE Plus Clinical ENSP00000462950.1:n.193+2215G>A
ENST00000361570.4:c.193+2215G>A ENSP00000355153.4:n.193+2215G>A
ENST00000404796.2:c.348-37509C>T ENSP00000385916.2:n.348-37509C>T
ENST00000470819.2:n.240+1958G>A
ENST00000494262.5:c.-4+1958G>A ENSP00000464952.1:n.-4+1958G>A
ENST00000498628.6:c.-4+2897G>A ENSP00000467857.1:n.-4+2897G>A
ENST00000530628.2:c.193+2215G>A ENSP00000432664.2:n.193+2215G>A
ENST00000579755.1:c.193+2215G>A ENSP00000462950.1:n.193+2215G>A
NM_058195.3:c.193+2215G>A , LRG_11t2:c.193+2215G>A NP_478102.2:n.193+2215G>A
XM_011517678.1:c.317-1969G>A XP_011515980.1:n.317-1969G>A
XM_011517679.1:c.-4+2897G>A XP_011515981.1:n.-4+2897G>A
XR_929161.1:n.340+2215G>A
XR_929162.1:n.340+2215G>A
XR_929163.1:n.289+2215G>A
NM_001363763.1:c.-4+2897G>A NP_001350692.1:n.-4+2897G>A
NM_001363763.2:c.-4+2897G>A NP_001350692.1:n.-4+2897G>A
NM_058195.4:c.193+2215G>A MANE Plus Clinical NP_478102.2:n.193+2215G>A