Canonical Allele Identifier: CA120395
Gene: CDKN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 9415
dbSNP Id: rs104894097
gnomAD v2: 9-21974756-C-G
gnomAD v3: 9-21974757-C-G
gnomAD v4: 9-21974757-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21974757C>G , CM000671.2:g.21974757C>G GRCh38
NC_000009.11:g.21974756C>G , CM000671.1:g.21974756C>G GRCh37
NC_000009.10:g.21964756C>G NCBI36
NG_007485.1:g.24735G>C , LRG_11:g.24735G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000304494.10:c.71G>C MANE Select ENSP00000307101.5:p.Arg24Pro
ENST00000404796.3:c.348-54676C>G ENSP00000385916.2:n.348-54676C>G
ENST00000579755.2:c.194-3549G>C MANE Plus Clinical ENSP00000462950.1:n.194-3549G>C
ENST00000304494.9:c.71G>C ENSP00000307101.5:p.Arg24Pro
ENST00000361570.4:c.194-3549G>C ENSP00000355153.4:n.194-3549G>C
ENST00000380151.3:c.71G>C ENSP00000369496.3:p.Arg24Pro
ENST00000404796.2:c.348-54676C>G ENSP00000385916.2:n.348-54676C>G
ENST00000494262.5:c.-3-3549G>C ENSP00000464952.1:n.-3-3549G>C
ENST00000498124.1:c.71G>C ENSP00000418915.1:p.Arg24Pro
ENST00000498628.6:c.-3-3549G>C ENSP00000467857.1:n.-3-3549G>C
ENST00000530628.2:c.194-3549G>C ENSP00000432664.2:n.194-3549G>C
ENST00000579122.1:c.71G>C ENSP00000464202.1:p.Arg24Pro
ENST00000579755.1:c.194-3549G>C ENSP00000462950.1:n.194-3549G>C
NM_000077.4:c.71G>C , LRG_11t1:c.71G>C NP_000068.1:p.Arg24Pro
NM_001195132.1:c.71G>C NP_001182061.1:p.Arg24Pro
NM_058195.3:c.194-3549G>C , LRG_11t2:c.194-3549G>C NP_478102.2:n.194-3549G>C
NM_058197.4:c.71G>C NP_478104.2:p.Arg24Pro
XM_011517675.1:c.71G>C XP_011515977.1:p.Arg24Pro
XM_011517676.1:c.71G>C XP_011515978.1:p.Arg24Pro
XM_011517679.1:c.-3-3549G>C XP_011515981.1:n.-3-3549G>C
XR_929159.1:n.472G>C
XR_929161.1:n.341-3549G>C
XR_929162.1:n.341-3549G>C
XR_929163.1:n.290-3549G>C
NM_001363763.1:c.-3-3549G>C NP_001350692.1:n.-3-3549G>C
XM_011517675.2:c.71G>C XP_011515977.1:p.Arg24Pro
XM_011517676.2:c.71G>C XP_011515978.1:p.Arg24Pro
XR_929159.2:n.401G>C
NM_001363763.2:c.-3-3549G>C NP_001350692.1:n.-3-3549G>C
NM_000077.5:c.71G>C MANE Select NP_000068.1:p.Arg24Pro
NM_001195132.2:c.71G>C NP_001182061.1:p.Arg24Pro
NM_058195.4:c.194-3549G>C MANE Plus Clinical NP_478102.2:n.194-3549G>C
NM_058197.5:c.71G>C NP_478104.2:p.Arg24Pro