Canonical Allele Identifier: CA287160
Gene: CDKN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 127523
dbSNP Id: rs199907548
gnomAD v2: 9-21974681-A-G
gnomAD v3: 9-21974682-A-G
gnomAD v4: 9-21974682-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21974682A>G , CM000671.2:g.21974682A>G GRCh38
NC_000009.11:g.21974681A>G , CM000671.1:g.21974681A>G GRCh37
NC_000009.10:g.21964681A>G NCBI36
NG_007485.1:g.24810T>C , LRG_11:g.24810T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304494.10:c.146T>C MANE Select ENSP00000307101.5:p.Ile49Thr
ENST00000404796.3:c.348-54751A>G ENSP00000385916.2:n.348-54751A>G
ENST00000579755.2:c.194-3474T>C MANE Plus Clinical ENSP00000462950.1:n.194-3474T>C
ENST00000304494.9:c.146T>C ENSP00000307101.5:p.Ile49Thr
ENST00000361570.4:c.194-3474T>C ENSP00000355153.4:n.194-3474T>C
ENST00000380151.3:c.146T>C ENSP00000369496.3:p.Ile49Thr
ENST00000404796.2:c.348-54751A>G ENSP00000385916.2:n.348-54751A>G
ENST00000494262.5:c.-3-3474T>C ENSP00000464952.1:n.-3-3474T>C
ENST00000498124.1:c.146T>C ENSP00000418915.1:p.Ile49Thr
ENST00000498628.6:c.-3-3474T>C ENSP00000467857.1:n.-3-3474T>C
ENST00000530628.2:c.194-3474T>C ENSP00000432664.2:n.194-3474T>C
ENST00000579122.1:c.146T>C ENSP00000464202.1:p.Ile49Thr
ENST00000579755.1:c.194-3474T>C ENSP00000462950.1:n.194-3474T>C
NM_000077.4:c.146T>C , LRG_11t1:c.146T>C NP_000068.1:p.Ile49Thr
NM_001195132.1:c.146T>C NP_001182061.1:p.Ile49Thr
NM_058195.3:c.194-3474T>C , LRG_11t2:c.194-3474T>C NP_478102.2:n.194-3474T>C
NM_058197.4:c.146T>C NP_478104.2:p.Ile49Thr
XM_011517675.1:c.146T>C XP_011515977.1:p.Ile49Thr
XM_011517676.1:c.146T>C XP_011515978.1:p.Ile49Thr
XM_011517679.1:c.-3-3474T>C XP_011515981.1:n.-3-3474T>C
XR_929159.1:n.547T>C
XR_929161.1:n.341-3474T>C
XR_929162.1:n.341-3474T>C
XR_929163.1:n.290-3474T>C
NM_001363763.1:c.-3-3474T>C NP_001350692.1:n.-3-3474T>C
XM_011517675.2:c.146T>C XP_011515977.1:p.Ile49Thr
XM_011517676.2:c.146T>C XP_011515978.1:p.Ile49Thr
XR_929159.2:n.476T>C
NM_001363763.2:c.-3-3474T>C NP_001350692.1:n.-3-3474T>C
NM_000077.5:c.146T>C MANE Select NP_000068.1:p.Ile49Thr
NM_001195132.2:c.146T>C NP_001182061.1:p.Ile49Thr
NM_058195.4:c.194-3474T>C MANE Plus Clinical NP_478102.2:n.194-3474T>C
NM_058197.5:c.146T>C NP_478104.2:p.Ile49Thr