Canonical Allele Identifier: CA190743161
Gene: CDKN2A HGNC NCBI

Linked Data

dbSNP Id: rs910479858
gnomAD v2: 9-21986883-T-G
gnomAD v3: 9-21986884-T-G
gnomAD v4: 9-21986884-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21986884T>G , CM000671.2:g.21986884T>G GRCh38
NC_000009.11:g.21986883T>G , CM000671.1:g.21986883T>G GRCh37
NC_000009.10:g.21976883T>G NCBI36
NG_007485.1:g.12608A>C , LRG_11:g.12608A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000404796.3:c.348-42549T>G ENSP00000385916.2:n.348-42549T>G
ENST00000579755.2:c.193+7255A>C MANE Plus Clinical ENSP00000462950.1:n.193+7255A>C
ENST00000361570.4:c.193+7255A>C ENSP00000355153.4:n.193+7255A>C
ENST00000404796.2:c.348-42549T>G ENSP00000385916.2:n.348-42549T>G
ENST00000494262.5:c.-4+6998A>C ENSP00000464952.1:n.-4+6998A>C
ENST00000498628.6:c.-4+7937A>C ENSP00000467857.1:n.-4+7937A>C
ENST00000530628.2:c.193+7255A>C ENSP00000432664.2:n.193+7255A>C
ENST00000579755.1:c.193+7255A>C ENSP00000462950.1:n.193+7255A>C
NM_058195.3:c.193+7255A>C , LRG_11t2:c.193+7255A>C NP_478102.2:n.193+7255A>C
XM_011517679.1:c.-4+7937A>C XP_011515981.1:n.-4+7937A>C
XR_929161.1:n.340+7255A>C
XR_929162.1:n.340+7255A>C
XR_929163.1:n.289+7255A>C
NM_001363763.1:c.-4+7937A>C NP_001350692.1:n.-4+7937A>C
NM_001363763.2:c.-4+7937A>C NP_001350692.1:n.-4+7937A>C
NM_058195.4:c.193+7255A>C MANE Plus Clinical NP_478102.2:n.193+7255A>C