Canonical Allele Identifier: CA373085799

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 801144
• ClinVar RCV Id: RCV000985668 ; RCV001320903 ; RCV002337040
• dbSNP Id: rs1206827598
• gnomAD v2: 9-21970898-C-T
• gnomAD v4: 9-21970899-C-T
• MyVariant Identifiers: chr9:g.21970898C>T (hg19) ; chr9:g.21970899C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21970899C>T , CM000671.2:g.21970899C>T	GRCh38
NC_000009.11:g.21970898C>T , CM000671.1:g.21970898C>T	GRCh37
NC_000009.10:g.21960898C>T	NCBI36
NG_007485.1:g.28593G>A , LRG_11:g.28593G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.457+3G>A MANE Select	ENSP00000307101.5:n.457+3G>A
ENST00000404796.3:c.348-58534C>T	ENSP00000385916.2:n.348-58534C>T
ENST00000579755.2:c.*101+3G>A MANE Plus Clinical	ENSP00000462950.1:n.*101+3G>A
ENST00000304494.9:c.457+3G>A	ENSP00000307101.5:n.457+3G>A
ENST00000361570.4:c.499+3G>A	ENSP00000355153.4:n.499+3G>A
ENST00000380150.2:n.431+3G>A
ENST00000380151.3:c.731+3G>A	ENSP00000369496.3:n.731+3G>A
ENST00000404796.2:c.348-58534C>T	ENSP00000385916.2:n.348-58534C>T
ENST00000479692.2:c.304+3G>A	ENSP00000466887.1:n.304+3G>A
ENST00000494262.5:c.304+3G>A	ENSP00000464952.1:n.304+3G>A
ENST00000497750.1:c.307G>A	ENSP00000468510.1:p.Glu103Lys
ENST00000498124.1:c.457+3G>A	ENSP00000418915.1:n.457+3G>A
ENST00000498628.6:c.304+3G>A	ENSP00000467857.1:n.304+3G>A
ENST00000530628.2:c.*27+77G>A	ENSP00000432664.2:n.*27+77G>A
ENST00000578845.2:c.304+3G>A	ENSP00000467390.1:n.304+3G>A
ENST00000579122.1:c.383+77G>A	ENSP00000464202.1:n.383+77G>A
ENST00000579755.1:c.*101+3G>A	ENSP00000462950.1:n.*101+3G>A
NM_000077.4:c.457+3G>A , LRG_11t1:c.457+3G>A	NP_000068.1:n.457+3G>A
NM_001195132.1:c.457+3G>A	NP_001182061.1:n.457+3G>A
NM_058195.3:c.*101+3G>A , LRG_11t2:c.*101+3G>A	NP_478102.2:n.*101+3G>A
NM_058197.4:c.731+3G>A	NP_478104.2:n.731+3G>A
XM_005251343.1:c.304+3G>A	XP_005251400.1:n.304+3G>A
XM_011517675.1:c.457+3G>A	XP_011515977.1:n.457+3G>A
XM_011517676.1:c.457+3G>A	XP_011515978.1:n.457+3G>A
XM_011517679.1:c.304+3G>A	XP_011515981.1:n.304+3G>A
XR_929159.1:n.858+3G>A
XR_929161.1:n.647+3G>A
XR_929162.1:n.647+3G>A
XR_929163.1:n.596+3G>A
XR_929164.1:n.379+3G>A
NM_001363763.1:c.304+3G>A	NP_001350692.1:n.304+3G>A
XM_011517675.2:c.457+3G>A	XP_011515977.1:n.457+3G>A
XM_011517676.2:c.457+3G>A	XP_011515978.1:n.457+3G>A
XR_929159.2:n.787+3G>A
NM_001363763.2:c.304+3G>A	NP_001350692.1:n.304+3G>A
NM_000077.5:c.457+3G>A MANE Select	NP_000068.1:n.457+3G>A
NM_001195132.2:c.457+3G>A	NP_001182061.1:n.457+3G>A
NM_058195.4:c.*101+3G>A MANE Plus Clinical	NP_478102.2:n.*101+3G>A
NM_058197.5:c.*380+3G>A	NP_478104.2:n.*380+3G>A