Canonical Allele Identifier: CA169666

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 142882
• ClinVar RCV Id: RCV000132342 ; RCV000236474 ; RCV000687345 ; RCV003474789
• dbSNP Id: rs587782792
• gnomAD v4: 9-21971108-T-G
• MyVariant Identifiers: chr9:g.21971107T>G (hg19) ; chr9:g.21971108T>G (hg38)
• PubMed: PMID:9751050 ; PMID:10498896 ; PMID:10874641 ; PMID:16169933 ; PMID:17218939 ; PMID:18803811 ; PMID:21325014 ; PMID:22841127

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971108T>G , CM000671.2:g.21971108T>G	GRCh38
NC_000009.11:g.21971107T>G , CM000671.1:g.21971107T>G	GRCh37
NC_000009.10:g.21961107T>G	NCBI36
NG_007485.1:g.28384A>C , LRG_11:g.28384A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.251A>C MANE Select	ENSP00000307101.5:p.Asp84Ala
ENST00000404796.3:c.348-58325T>G	ENSP00000385916.2:n.348-58325T>G
ENST00000579755.2:c.294A>C MANE Plus Clinical	ENSP00000462950.1:p.Arg98=
ENST00000304494.9:c.251A>C	ENSP00000307101.5:p.Asp84Ala
ENST00000361570.4:c.293A>C	ENSP00000355153.4:p.Asp98Ala
ENST00000380150.2:n.225A>C
ENST00000380151.3:c.525A>C	ENSP00000369496.3:n.525A>C
ENST00000404796.2:c.348-58325T>G	ENSP00000385916.2:n.348-58325T>G
ENST00000479692.2:c.98A>C	ENSP00000466887.1:p.Asp33Ala
ENST00000494262.5:c.98A>C	ENSP00000464952.1:p.Asp33Ala
ENST00000497750.1:c.98A>C	ENSP00000468510.1:p.Asp33Ala
ENST00000498124.1:c.251A>C	ENSP00000418915.1:p.Asp84Ala
ENST00000498628.6:c.98A>C	ENSP00000467857.1:p.Asp33Ala
ENST00000530628.2:c.294A>C	ENSP00000432664.2:p.Arg98=
ENST00000578845.2:c.98A>C	ENSP00000467390.1:p.Asp33Ala
ENST00000579122.1:c.251A>C	ENSP00000464202.1:p.Asp84Ala
ENST00000579755.1:c.294A>C	ENSP00000462950.1:p.Arg98=
NM_000077.4:c.251A>C , LRG_11t1:c.251A>C	NP_000068.1:p.Asp84Ala
NM_001195132.1:c.251A>C	NP_001182061.1:p.Asp84Ala
NM_058195.3:c.294A>C , LRG_11t2:c.294A>C	NP_478102.2:p.Arg98=
NM_058197.4:c.525A>C	NP_478104.2:n.525A>C
XM_005251343.1:c.98A>C	XP_005251400.1:p.Asp33Ala
XM_011517675.1:c.251A>C	XP_011515977.1:p.Asp84Ala
XM_011517676.1:c.251A>C	XP_011515978.1:p.Asp84Ala
XM_011517679.1:c.98A>C	XP_011515981.1:p.Asp33Ala
XR_929159.1:n.652A>C
XR_929161.1:n.441A>C
XR_929162.1:n.441A>C
XR_929163.1:n.390A>C
XR_929164.1:n.173A>C
NM_001363763.1:c.98A>C	NP_001350692.1:p.Asp33Ala
XM_011517675.2:c.251A>C	XP_011515977.1:p.Asp84Ala
XM_011517676.2:c.251A>C	XP_011515978.1:p.Asp84Ala
XR_929159.2:n.581A>C
NM_001363763.2:c.98A>C	NP_001350692.1:p.Asp33Ala
NM_000077.5:c.251A>C MANE Select	NP_000068.1:p.Asp84Ala
NM_001195132.2:c.251A>C	NP_001182061.1:p.Asp84Ala
NM_058195.4:c.294A>C MANE Plus Clinical	NP_478102.2:p.Arg98=
NM_058197.5:c.*174A>C	NP_478104.2:n.*174A>C