Canonical Allele Identifier: CA190733248
Gene: CDKN2A HGNC NCBI

Linked Data

dbSNP Id: rs565075759
gnomAD v3: 9-21974903-G-A
gnomAD v4: 9-21974903-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21974903G>A , CM000671.2:g.21974903G>A GRCh38
NC_000009.11:g.21974902G>A , CM000671.1:g.21974902G>A GRCh37
NC_000009.10:g.21964902G>A NCBI36
NG_007485.1:g.24589C>T , LRG_11:g.24589C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000404796.3:c.348-54530G>A ENSP00000385916.2:n.348-54530G>A
ENST00000579755.2:c.194-3695C>T MANE Plus Clinical ENSP00000462950.1:n.194-3695C>T
ENST00000304494.9:c.-76C>T ENSP00000307101.5:n.-76C>T
ENST00000361570.4:c.194-3695C>T ENSP00000355153.4:n.194-3695C>T
ENST00000404796.2:c.348-54530G>A ENSP00000385916.2:n.348-54530G>A
ENST00000494262.5:c.-3-3695C>T ENSP00000464952.1:n.-3-3695C>T
ENST00000498628.6:c.-3-3695C>T ENSP00000467857.1:n.-3-3695C>T
ENST00000530628.2:c.194-3695C>T ENSP00000432664.2:n.194-3695C>T
ENST00000579755.1:c.194-3695C>T ENSP00000462950.1:n.194-3695C>T
NM_000077.4:c.-76C>T , LRG_11t1:c.-76C>T NP_000068.1:n.-76C>T
NM_001195132.1:c.-76C>T NP_001182061.1:n.-76C>T
NM_058195.3:c.194-3695C>T , LRG_11t2:c.194-3695C>T NP_478102.2:n.194-3695C>T
XM_011517675.1:c.-76C>T XP_011515977.1:n.-76C>T
XM_011517676.1:c.-76C>T XP_011515978.1:n.-76C>T
XM_011517679.1:c.-3-3695C>T XP_011515981.1:n.-3-3695C>T
XR_929159.1:n.326C>T
XR_929161.1:n.341-3695C>T
XR_929162.1:n.341-3695C>T
XR_929163.1:n.290-3695C>T
NM_001363763.1:c.-3-3695C>T NP_001350692.1:n.-3-3695C>T
XM_011517675.2:c.-76C>T XP_011515977.1:n.-76C>T
XM_011517676.2:c.-76C>T XP_011515978.1:n.-76C>T
XR_929159.2:n.255C>T
NM_001363763.2:c.-3-3695C>T NP_001350692.1:n.-3-3695C>T
NM_058195.4:c.194-3695C>T MANE Plus Clinical NP_478102.2:n.194-3695C>T