Canonical Allele Identifier: CA373086141

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 1440968
• ClinVar RCV Id: RCV001937024
• dbSNP Id: rs1587331506
• gnomAD v4: 9-21971073-C-G
• MyVariant Identifiers: chr9:g.21971072C>G (hg19) ; chr9:g.21971073C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971073C>G , CM000671.2:g.21971073C>G	GRCh38
NC_000009.11:g.21971072C>G , CM000671.1:g.21971072C>G	GRCh37
NC_000009.10:g.21961072C>G	NCBI36
NG_007485.1:g.28419G>C , LRG_11:g.28419G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.286G>C MANE Select	ENSP00000307101.5:p.Val96Leu
ENST00000404796.3:c.348-58360C>G	ENSP00000385916.2:n.348-58360C>G
ENST00000579755.2:c.329G>C MANE Plus Clinical	ENSP00000462950.1:p.Gly110Ala
ENST00000304494.9:c.286G>C	ENSP00000307101.5:p.Val96Leu
ENST00000361570.4:c.328G>C	ENSP00000355153.4:p.Val110Leu
ENST00000380150.2:n.260G>C
ENST00000380151.3:c.560G>C	ENSP00000369496.3:n.560G>C
ENST00000404796.2:c.348-58360C>G	ENSP00000385916.2:n.348-58360C>G
ENST00000479692.2:c.133G>C	ENSP00000466887.1:p.Val45Leu
ENST00000494262.5:c.133G>C	ENSP00000464952.1:p.Val45Leu
ENST00000497750.1:c.133G>C	ENSP00000468510.1:p.Val45Leu
ENST00000498124.1:c.286G>C	ENSP00000418915.1:p.Val96Leu
ENST00000498628.6:c.133G>C	ENSP00000467857.1:p.Val45Leu
ENST00000530628.2:c.329G>C	ENSP00000432664.2:p.Gly110Ala
ENST00000578845.2:c.133G>C	ENSP00000467390.1:p.Val45Leu
ENST00000579122.1:c.286G>C	ENSP00000464202.1:p.Val96Leu
ENST00000579755.1:c.329G>C	ENSP00000462950.1:p.Gly110Ala
NM_000077.4:c.286G>C , LRG_11t1:c.286G>C	NP_000068.1:p.Val96Leu
NM_001195132.1:c.286G>C	NP_001182061.1:p.Val96Leu
NM_058195.3:c.329G>C , LRG_11t2:c.329G>C	NP_478102.2:p.Gly110Ala
NM_058197.4:c.560G>C	NP_478104.2:n.560G>C
XM_005251343.1:c.133G>C	XP_005251400.1:p.Val45Leu
XM_011517675.1:c.286G>C	XP_011515977.1:p.Val96Leu
XM_011517676.1:c.286G>C	XP_011515978.1:p.Val96Leu
XM_011517679.1:c.133G>C	XP_011515981.1:p.Val45Leu
XR_929159.1:n.687G>C
XR_929161.1:n.476G>C
XR_929162.1:n.476G>C
XR_929163.1:n.425G>C
XR_929164.1:n.208G>C
NM_001363763.1:c.133G>C	NP_001350692.1:p.Val45Leu
XM_011517675.2:c.286G>C	XP_011515977.1:p.Val96Leu
XM_011517676.2:c.286G>C	XP_011515978.1:p.Val96Leu
XR_929159.2:n.616G>C
NM_001363763.2:c.133G>C	NP_001350692.1:p.Val45Leu
NM_000077.5:c.286G>C MANE Select	NP_000068.1:p.Val96Leu
NM_001195132.2:c.286G>C	NP_001182061.1:p.Val96Leu
NM_058195.4:c.329G>C MANE Plus Clinical	NP_478102.2:p.Gly110Ala
NM_058197.5:c.*209G>C	NP_478104.2:n.*209G>C