Canonical Allele Identifier: CA373086165

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 1795894
• ClinVar RCV Id: RCV002439704 ; RCV003102206
• dbSNP Id: rs2131094531
• COSMIC: COSM13617
• MyVariant Identifiers: chr9:g.21971081T>C (hg19) ; chr9:g.21971082T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971082T>C , CM000671.2:g.21971082T>C	GRCh38
NC_000009.11:g.21971081T>C , CM000671.1:g.21971081T>C	GRCh37
NC_000009.10:g.21961081T>C	NCBI36
NG_007485.1:g.28410A>G , LRG_11:g.28410A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.277A>G MANE Select	ENSP00000307101.5:p.Thr93Ala
ENST00000404796.3:c.348-58351T>C	ENSP00000385916.2:n.348-58351T>C
ENST00000579755.2:c.320A>G MANE Plus Clinical	ENSP00000462950.1:p.His107Arg
ENST00000304494.9:c.277A>G	ENSP00000307101.5:p.Thr93Ala
ENST00000361570.4:c.319A>G	ENSP00000355153.4:p.Thr107Ala
ENST00000380150.2:n.251A>G
ENST00000380151.3:c.551A>G	ENSP00000369496.3:n.551A>G
ENST00000404796.2:c.348-58351T>C	ENSP00000385916.2:n.348-58351T>C
ENST00000479692.2:c.124A>G	ENSP00000466887.1:p.Thr42Ala
ENST00000494262.5:c.124A>G	ENSP00000464952.1:p.Thr42Ala
ENST00000497750.1:c.124A>G	ENSP00000468510.1:p.Thr42Ala
ENST00000498124.1:c.277A>G	ENSP00000418915.1:p.Thr93Ala
ENST00000498628.6:c.124A>G	ENSP00000467857.1:p.Thr42Ala
ENST00000530628.2:c.320A>G	ENSP00000432664.2:p.His107Arg
ENST00000578845.2:c.124A>G	ENSP00000467390.1:p.Thr42Ala
ENST00000579122.1:c.277A>G	ENSP00000464202.1:p.Thr93Ala
ENST00000579755.1:c.320A>G	ENSP00000462950.1:p.His107Arg
NM_000077.4:c.277A>G , LRG_11t1:c.277A>G	NP_000068.1:p.Thr93Ala
NM_001195132.1:c.277A>G	NP_001182061.1:p.Thr93Ala
NM_058195.3:c.320A>G , LRG_11t2:c.320A>G	NP_478102.2:p.His107Arg
NM_058197.4:c.551A>G	NP_478104.2:n.551A>G
XM_005251343.1:c.124A>G	XP_005251400.1:p.Thr42Ala
XM_011517675.1:c.277A>G	XP_011515977.1:p.Thr93Ala
XM_011517676.1:c.277A>G	XP_011515978.1:p.Thr93Ala
XM_011517679.1:c.124A>G	XP_011515981.1:p.Thr42Ala
XR_929159.1:n.678A>G
XR_929161.1:n.467A>G
XR_929162.1:n.467A>G
XR_929163.1:n.416A>G
XR_929164.1:n.199A>G
NM_001363763.1:c.124A>G	NP_001350692.1:p.Thr42Ala
XM_011517675.2:c.277A>G	XP_011515977.1:p.Thr93Ala
XM_011517676.2:c.277A>G	XP_011515978.1:p.Thr93Ala
XR_929159.2:n.607A>G
NM_001363763.2:c.124A>G	NP_001350692.1:p.Thr42Ala
NM_000077.5:c.277A>G MANE Select	NP_000068.1:p.Thr93Ala
NM_001195132.2:c.277A>G	NP_001182061.1:p.Thr93Ala
NM_058195.4:c.320A>G MANE Plus Clinical	NP_478102.2:p.His107Arg
NM_058197.5:c.*200A>G	NP_478104.2:n.*200A>G