Canonical Allele Identifier: CA373085840

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 2012076
• ClinVar RCV Id: RCV002856149
• dbSNP Id: rs1819681602
• MyVariant Identifiers: chr9:g.21970920A>C (hg19) ; chr9:g.21970921A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21970921A>C , CM000671.2:g.21970921A>C	GRCh38
NC_000009.11:g.21970920A>C , CM000671.1:g.21970920A>C	GRCh37
NC_000009.10:g.21960920A>C	NCBI36
NG_007485.1:g.28571T>G , LRG_11:g.28571T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.438T>G MANE Select	ENSP00000307101.5:p.Asp146Glu
ENST00000404796.3:c.348-58512A>C	ENSP00000385916.2:n.348-58512A>C
ENST00000579755.2:c.*82T>G MANE Plus Clinical	ENSP00000462950.1:n.*82T>G
ENST00000304494.9:c.438T>G	ENSP00000307101.5:p.Asp146Glu
ENST00000361570.4:c.480T>G	ENSP00000355153.4:p.Asp160Glu
ENST00000380150.2:n.412T>G
ENST00000380151.3:c.712T>G	ENSP00000369496.3:n.712T>G
ENST00000404796.2:c.348-58512A>C	ENSP00000385916.2:n.348-58512A>C
ENST00000479692.2:c.285T>G	ENSP00000466887.1:p.Asp95Glu
ENST00000494262.5:c.285T>G	ENSP00000464952.1:p.Asp95Glu
ENST00000497750.1:c.285T>G	ENSP00000468510.1:p.Asp95Glu
ENST00000498124.1:c.438T>G	ENSP00000418915.1:p.Asp146Glu
ENST00000498628.6:c.285T>G	ENSP00000467857.1:p.Asp95Glu
ENST00000530628.2:c.*27+55T>G	ENSP00000432664.2:n.*27+55T>G
ENST00000578845.2:c.285T>G	ENSP00000467390.1:p.Asp95Glu
ENST00000579122.1:c.383+55T>G	ENSP00000464202.1:n.383+55T>G
ENST00000579755.1:c.*82T>G	ENSP00000462950.1:n.*82T>G
NM_000077.4:c.438T>G , LRG_11t1:c.438T>G	NP_000068.1:p.Asp146Glu
NM_001195132.1:c.438T>G	NP_001182061.1:p.Asp146Glu
NM_058195.3:c.*82T>G , LRG_11t2:c.*82T>G	NP_478102.2:n.*82T>G
NM_058197.4:c.712T>G	NP_478104.2:n.712T>G
XM_005251343.1:c.285T>G	XP_005251400.1:p.Asp95Glu
XM_011517675.1:c.438T>G	XP_011515977.1:p.Asp146Glu
XM_011517676.1:c.438T>G	XP_011515978.1:p.Asp146Glu
XM_011517679.1:c.285T>G	XP_011515981.1:p.Asp95Glu
XR_929159.1:n.839T>G
XR_929161.1:n.628T>G
XR_929162.1:n.628T>G
XR_929163.1:n.577T>G
XR_929164.1:n.360T>G
NM_001363763.1:c.285T>G	NP_001350692.1:p.Asp95Glu
XM_011517675.2:c.438T>G	XP_011515977.1:p.Asp146Glu
XM_011517676.2:c.438T>G	XP_011515978.1:p.Asp146Glu
XR_929159.2:n.768T>G
NM_001363763.2:c.285T>G	NP_001350692.1:p.Asp95Glu
NM_000077.5:c.438T>G MANE Select	NP_000068.1:p.Asp146Glu
NM_001195132.2:c.438T>G	NP_001182061.1:p.Asp146Glu
NM_058195.4:c.*82T>G MANE Plus Clinical	NP_478102.2:n.*82T>G
NM_058197.5:c.*361T>G	NP_478104.2:n.*361T>G