Canonical Allele Identifier: CA464261832

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 1692141
• ClinVar RCV Id: RCV002257068
• dbSNP Id: rs2131092754
• gnomAD v4: 9-21970981-G-A
• COSMIC: COSM13827 ; COSM1107899 ; COSM1598223
• MyVariant Identifiers: chr9:g.21970980G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21970981G>A , CM000671.2:g.21970981G>A	GRCh38
NC_000009.11:g.21970980G>A , CM000671.1:g.21970980G>A	GRCh37
NC_000009.10:g.21960980G>A	NCBI36
NG_007485.1:g.28511C>T , LRG_11:g.28511C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.378C>T MANE Select	ENSP00000307101.5:p.Val126=
ENST00000404796.3:c.348-58452G>A	ENSP00000385916.2:n.348-58452G>A
ENST00000579755.2:c.*22C>T MANE Plus Clinical	ENSP00000462950.1:n.*22C>T
ENST00000304494.9:c.378C>T	ENSP00000307101.5:p.Val126=
ENST00000361570.4:c.420C>T	ENSP00000355153.4:p.Val140=
ENST00000380150.2:n.352C>T
ENST00000380151.3:c.652C>T	ENSP00000369496.3:n.652C>T
ENST00000404796.2:c.348-58452G>A	ENSP00000385916.2:n.348-58452G>A
ENST00000479692.2:c.225C>T	ENSP00000466887.1:p.Val75=
ENST00000494262.5:c.225C>T	ENSP00000464952.1:p.Val75=
ENST00000497750.1:c.225C>T	ENSP00000468510.1:p.Val75=
ENST00000498124.1:c.378C>T	ENSP00000418915.1:p.Val126=
ENST00000498628.6:c.225C>T	ENSP00000467857.1:p.Val75=
ENST00000530628.2:c.*22C>T	ENSP00000432664.2:n.*22C>T
ENST00000578845.2:c.225C>T	ENSP00000467390.1:p.Val75=
ENST00000579122.1:c.378C>T	ENSP00000464202.1:p.Val126=
ENST00000579755.1:c.*22C>T	ENSP00000462950.1:n.*22C>T
NM_000077.4:c.378C>T , LRG_11t1:c.378C>T	NP_000068.1:p.Val126=
NM_001195132.1:c.378C>T	NP_001182061.1:p.Val126=
NM_058195.3:c.*22C>T , LRG_11t2:c.*22C>T	NP_478102.2:n.*22C>T
NM_058197.4:c.652C>T	NP_478104.2:n.652C>T
XM_005251343.1:c.225C>T	XP_005251400.1:p.Val75=
XM_011517675.1:c.378C>T	XP_011515977.1:p.Val126=
XM_011517676.1:c.378C>T	XP_011515978.1:p.Val126=
XM_011517679.1:c.225C>T	XP_011515981.1:p.Val75=
XR_929159.1:n.779C>T
XR_929161.1:n.568C>T
XR_929162.1:n.568C>T
XR_929163.1:n.517C>T
XR_929164.1:n.300C>T
NM_001363763.1:c.225C>T	NP_001350692.1:p.Val75=
XM_011517675.2:c.378C>T	XP_011515977.1:p.Val126=
XM_011517676.2:c.378C>T	XP_011515978.1:p.Val126=
XR_929159.2:n.708C>T
NM_001363763.2:c.225C>T	NP_001350692.1:p.Val75=
NM_000077.5:c.378C>T MANE Select	NP_000068.1:p.Val126=
NM_001195132.2:c.378C>T	NP_001182061.1:p.Val126=
NM_058195.4:c.*22C>T MANE Plus Clinical	NP_478102.2:n.*22C>T
NM_058197.5:c.*301C>T	NP_478104.2:n.*301C>T