Canonical Allele Identifier: CA151466

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 127522
• ClinVar RCV Id: RCV000115330 ; RCV000204607 ; RCV000200981 ; RCV000412304 ; RCV001753492
• dbSNP Id: rs144481587
• ExAC: 9:21974851 G / A
• gnomAD v2: 9-21974851-G-A
• gnomAD v3: 9-21974852-G-A
• gnomAD v4: 9-21974852-G-A
• COSMIC: COSM12540
• MyVariant Identifiers: chr9:g.21974851G>A (hg19) ; chr9:g.21974852G>A (hg38)
• PubMed: PMID:14735200 ; PMID:16397522 ; PMID:18335566 ; PMID:18983535 ; PMID:20093296 ; PMID:21801156 ; PMID:25186627 ; PMID:25318351 ; PMID:25356972 ; PMID:25980754 ; PMID:26498684 ; PMID:26581427 ; PMID:26775776

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21974852G>A , CM000671.2:g.21974852G>A	GRCh38
NC_000009.11:g.21974851G>A , CM000671.1:g.21974851G>A	GRCh37
NC_000009.10:g.21964851G>A	NCBI36
NG_007485.1:g.24640C>T , LRG_11:g.24640C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.-25C>T MANE Select	ENSP00000307101.5:n.-25C>T
ENST00000404796.3:c.348-54581G>A	ENSP00000385916.2:n.348-54581G>A
ENST00000579755.2:c.194-3644C>T MANE Plus Clinical	ENSP00000462950.1:n.194-3644C>T
ENST00000304494.9:c.-25C>T	ENSP00000307101.5:n.-25C>T
ENST00000361570.4:c.194-3644C>T	ENSP00000355153.4:n.194-3644C>T
ENST00000404796.2:c.348-54581G>A	ENSP00000385916.2:n.348-54581G>A
ENST00000494262.5:c.-3-3644C>T	ENSP00000464952.1:n.-3-3644C>T
ENST00000498124.1:c.-25C>T	ENSP00000418915.1:n.-25C>T
ENST00000498628.6:c.-3-3644C>T	ENSP00000467857.1:n.-3-3644C>T
ENST00000530628.2:c.194-3644C>T	ENSP00000432664.2:n.194-3644C>T
ENST00000579122.1:c.-25C>T	ENSP00000464202.1:n.-25C>T
ENST00000579755.1:c.194-3644C>T	ENSP00000462950.1:n.194-3644C>T
NM_000077.4:c.-25C>T , LRG_11t1:c.-25C>T	NP_000068.1:n.-25C>T
NM_001195132.1:c.-25C>T	NP_001182061.1:n.-25C>T
NM_058195.3:c.194-3644C>T , LRG_11t2:c.194-3644C>T	NP_478102.2:n.194-3644C>T
XM_011517675.1:c.-25C>T	XP_011515977.1:n.-25C>T
XM_011517676.1:c.-25C>T	XP_011515978.1:n.-25C>T
XM_011517679.1:c.-3-3644C>T	XP_011515981.1:n.-3-3644C>T
XR_929159.1:n.377C>T
XR_929161.1:n.341-3644C>T
XR_929162.1:n.341-3644C>T
XR_929163.1:n.290-3644C>T
NM_001363763.1:c.-3-3644C>T	NP_001350692.1:n.-3-3644C>T
XM_011517675.2:c.-25C>T	XP_011515977.1:n.-25C>T
XM_011517676.2:c.-25C>T	XP_011515978.1:n.-25C>T
XR_929159.2:n.306C>T
NM_001363763.2:c.-3-3644C>T	NP_001350692.1:n.-3-3644C>T
NM_000077.5:c.-25C>T MANE Select	NP_000068.1:n.-25C>T
NM_001195132.2:c.-25C>T	NP_001182061.1:n.-25C>T
NM_058195.4:c.194-3644C>T MANE Plus Clinical	NP_478102.2:n.194-3644C>T
NM_058197.5:c.-25C>T	NP_478104.2:n.-25C>T