Canonical Allele Identifier: CA16605819

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 391388
• ClinVar RCV Id: RCV000418258 ; RCV001417204 ; RCV002328992
• dbSNP Id: rs1057524065
• gnomAD v2: 9-21970917-G-T
• gnomAD v4: 9-21970918-G-T
• COSMIC: COSM28539
• MyVariant Identifiers: chr9:g.21970917G>T (hg19) ; chr9:g.21970918G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21970918G>T , CM000671.2:g.21970918G>T	GRCh38
NC_000009.11:g.21970917G>T , CM000671.1:g.21970917G>T	GRCh37
NC_000009.10:g.21960917G>T	NCBI36
NG_007485.1:g.28574C>A , LRG_11:g.28574C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.441C>A MANE Select	ENSP00000307101.5:p.Ala147=
ENST00000404796.3:c.348-58515G>T	ENSP00000385916.2:n.348-58515G>T
ENST00000579755.2:c.*85C>A MANE Plus Clinical	ENSP00000462950.1:n.*85C>A
ENST00000304494.9:c.441C>A	ENSP00000307101.5:p.Ala147=
ENST00000361570.4:c.483C>A	ENSP00000355153.4:p.Ala161=
ENST00000380150.2:n.415C>A
ENST00000380151.3:c.715C>A	ENSP00000369496.3:n.715C>A
ENST00000404796.2:c.348-58515G>T	ENSP00000385916.2:n.348-58515G>T
ENST00000479692.2:c.288C>A	ENSP00000466887.1:p.Ala96=
ENST00000494262.5:c.288C>A	ENSP00000464952.1:p.Ala96=
ENST00000497750.1:c.288C>A	ENSP00000468510.1:p.Ala96=
ENST00000498124.1:c.441C>A	ENSP00000418915.1:p.Ala147=
ENST00000498628.6:c.288C>A	ENSP00000467857.1:p.Ala96=
ENST00000530628.2:c.*27+58C>A	ENSP00000432664.2:n.*27+58C>A
ENST00000578845.2:c.288C>A	ENSP00000467390.1:p.Ala96=
ENST00000579122.1:c.383+58C>A	ENSP00000464202.1:n.383+58C>A
ENST00000579755.1:c.*85C>A	ENSP00000462950.1:n.*85C>A
NM_000077.4:c.441C>A , LRG_11t1:c.441C>A	NP_000068.1:p.Ala147=
NM_001195132.1:c.441C>A	NP_001182061.1:p.Ala147=
NM_058195.3:c.*85C>A , LRG_11t2:c.*85C>A	NP_478102.2:n.*85C>A
NM_058197.4:c.715C>A	NP_478104.2:n.715C>A
XM_005251343.1:c.288C>A	XP_005251400.1:p.Ala96=
XM_011517675.1:c.441C>A	XP_011515977.1:p.Ala147=
XM_011517676.1:c.441C>A	XP_011515978.1:p.Ala147=
XM_011517679.1:c.288C>A	XP_011515981.1:p.Ala96=
XR_929159.1:n.842C>A
XR_929161.1:n.631C>A
XR_929162.1:n.631C>A
XR_929163.1:n.580C>A
XR_929164.1:n.363C>A
NM_001363763.1:c.288C>A	NP_001350692.1:p.Ala96=
XM_011517675.2:c.441C>A	XP_011515977.1:p.Ala147=
XM_011517676.2:c.441C>A	XP_011515978.1:p.Ala147=
XR_929159.2:n.771C>A
NM_001363763.2:c.288C>A	NP_001350692.1:p.Ala96=
NM_000077.5:c.441C>A MANE Select	NP_000068.1:p.Ala147=
NM_001195132.2:c.441C>A	NP_001182061.1:p.Ala147=
NM_058195.4:c.*85C>A MANE Plus Clinical	NP_478102.2:n.*85C>A
NM_058197.5:c.*364C>A	NP_478104.2:n.*364C>A