Canonical Allele Identifier: CA373086237

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 483328
• ClinVar RCV Id: RCV000573528 ; RCV000698900
• dbSNP Id: rs1060504181
• gnomAD v2: 9-21971112-C-T
• gnomAD v4: 9-21971113-C-T
• COSMIC: COSM12759
• MyVariant Identifiers: chr9:g.21971112C>T (hg19) ; chr9:g.21971113C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971113C>T , CM000671.2:g.21971113C>T	GRCh38
NC_000009.11:g.21971112C>T , CM000671.1:g.21971112C>T	GRCh37
NC_000009.10:g.21961112C>T	NCBI36
NG_007485.1:g.28379G>A , LRG_11:g.28379G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.246G>A MANE Select	ENSP00000307101.5:p.Val82=
ENST00000404796.3:c.348-58320C>T	ENSP00000385916.2:n.348-58320C>T
ENST00000579755.2:c.289G>A MANE Plus Clinical	ENSP00000462950.1:p.Ala97Thr
ENST00000304494.9:c.246G>A	ENSP00000307101.5:p.Val82=
ENST00000361570.4:c.288G>A	ENSP00000355153.4:p.Val96=
ENST00000380150.2:n.220G>A
ENST00000380151.3:c.520G>A	ENSP00000369496.3:n.520G>A
ENST00000404796.2:c.348-58320C>T	ENSP00000385916.2:n.348-58320C>T
ENST00000479692.2:c.93G>A	ENSP00000466887.1:p.Val31=
ENST00000494262.5:c.93G>A	ENSP00000464952.1:p.Val31=
ENST00000497750.1:c.93G>A	ENSP00000468510.1:p.Val31=
ENST00000498124.1:c.246G>A	ENSP00000418915.1:p.Val82=
ENST00000498628.6:c.93G>A	ENSP00000467857.1:p.Val31=
ENST00000530628.2:c.289G>A	ENSP00000432664.2:p.Ala97Thr
ENST00000578845.2:c.93G>A	ENSP00000467390.1:p.Val31=
ENST00000579122.1:c.246G>A	ENSP00000464202.1:p.Val82=
ENST00000579755.1:c.289G>A	ENSP00000462950.1:p.Ala97Thr
NM_000077.4:c.246G>A , LRG_11t1:c.246G>A	NP_000068.1:p.Val82=
NM_001195132.1:c.246G>A	NP_001182061.1:p.Val82=
NM_058195.3:c.289G>A , LRG_11t2:c.289G>A	NP_478102.2:p.Ala97Thr
NM_058197.4:c.520G>A	NP_478104.2:n.520G>A
XM_005251343.1:c.93G>A	XP_005251400.1:p.Val31=
XM_011517675.1:c.246G>A	XP_011515977.1:p.Val82=
XM_011517676.1:c.246G>A	XP_011515978.1:p.Val82=
XM_011517679.1:c.93G>A	XP_011515981.1:p.Val31=
XR_929159.1:n.647G>A
XR_929161.1:n.436G>A
XR_929162.1:n.436G>A
XR_929163.1:n.385G>A
XR_929164.1:n.168G>A
NM_001363763.1:c.93G>A	NP_001350692.1:p.Val31=
XM_011517675.2:c.246G>A	XP_011515977.1:p.Val82=
XM_011517676.2:c.246G>A	XP_011515978.1:p.Val82=
XR_929159.2:n.576G>A
NM_001363763.2:c.93G>A	NP_001350692.1:p.Val31=
NM_000077.5:c.246G>A MANE Select	NP_000068.1:p.Val82=
NM_001195132.2:c.246G>A	NP_001182061.1:p.Val82=
NM_058195.4:c.289G>A MANE Plus Clinical	NP_478102.2:p.Ala97Thr
NM_058197.5:c.*169G>A	NP_478104.2:n.*169G>A