Canonical Allele Identifier: CA10578835

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 233990
• ClinVar RCV Id: RCV000213697 ; RCV000482197 ; RCV000532054 ; RCV001175087
• dbSNP Id: rs145012438
• gnomAD v2: 9-21970946-T-C
• gnomAD v3: 9-21970947-T-C
• gnomAD v4: 9-21970947-T-C
• MyVariant Identifiers: chr9:g.21970946T>C (hg19) ; chr9:g.21970947T>C (hg38)
• PubMed: PMID:11511321 ; PMID:26104880

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21970947T>C , CM000671.2:g.21970947T>C	GRCh38
NC_000009.11:g.21970946T>C , CM000671.1:g.21970946T>C	GRCh37
NC_000009.10:g.21960946T>C	NCBI36
NG_007485.1:g.28545A>G , LRG_11:g.28545A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.412A>G MANE Select	ENSP00000307101.5:p.Arg138Gly
ENST00000404796.3:c.348-58486T>C	ENSP00000385916.2:n.348-58486T>C
ENST00000579755.2:c.*56A>G MANE Plus Clinical	ENSP00000462950.1:n.*56A>G
ENST00000304494.9:c.412A>G	ENSP00000307101.5:p.Arg138Gly
ENST00000361570.4:c.454A>G	ENSP00000355153.4:p.Arg152Gly
ENST00000380150.2:n.386A>G
ENST00000380151.3:c.686A>G	ENSP00000369496.3:n.686A>G
ENST00000404796.2:c.348-58486T>C	ENSP00000385916.2:n.348-58486T>C
ENST00000479692.2:c.259A>G	ENSP00000466887.1:p.Arg87Gly
ENST00000494262.5:c.259A>G	ENSP00000464952.1:p.Arg87Gly
ENST00000497750.1:c.259A>G	ENSP00000468510.1:p.Arg87Gly
ENST00000498124.1:c.412A>G	ENSP00000418915.1:p.Arg138Gly
ENST00000498628.6:c.259A>G	ENSP00000467857.1:p.Arg87Gly
ENST00000530628.2:c.*27+29A>G	ENSP00000432664.2:n.*27+29A>G
ENST00000578845.2:c.259A>G	ENSP00000467390.1:p.Arg87Gly
ENST00000579122.1:c.383+29A>G	ENSP00000464202.1:n.383+29A>G
ENST00000579755.1:c.*56A>G	ENSP00000462950.1:n.*56A>G
NM_000077.4:c.412A>G , LRG_11t1:c.412A>G	NP_000068.1:p.Arg138Gly
NM_001195132.1:c.412A>G	NP_001182061.1:p.Arg138Gly
NM_058195.3:c.*56A>G , LRG_11t2:c.*56A>G	NP_478102.2:n.*56A>G
NM_058197.4:c.686A>G	NP_478104.2:n.686A>G
XM_005251343.1:c.259A>G	XP_005251400.1:p.Arg87Gly
XM_011517675.1:c.412A>G	XP_011515977.1:p.Arg138Gly
XM_011517676.1:c.412A>G	XP_011515978.1:p.Arg138Gly
XM_011517679.1:c.259A>G	XP_011515981.1:p.Arg87Gly
XR_929159.1:n.813A>G
XR_929161.1:n.602A>G
XR_929162.1:n.602A>G
XR_929163.1:n.551A>G
XR_929164.1:n.334A>G
NM_001363763.1:c.259A>G	NP_001350692.1:p.Arg87Gly
XM_011517675.2:c.412A>G	XP_011515977.1:p.Arg138Gly
XM_011517676.2:c.412A>G	XP_011515978.1:p.Arg138Gly
XR_929159.2:n.742A>G
NM_001363763.2:c.259A>G	NP_001350692.1:p.Arg87Gly
NM_000077.5:c.412A>G MANE Select	NP_000068.1:p.Arg138Gly
NM_001195132.2:c.412A>G	NP_001182061.1:p.Arg138Gly
NM_058195.4:c.*56A>G MANE Plus Clinical	NP_478102.2:n.*56A>G
NM_058197.5:c.*335A>G	NP_478104.2:n.*335A>G