Canonical Allele Identifier: CA373085982

Gene: CDKN2A

Linked Data

• COSMIC: COSM13614
• MyVariant Identifiers: chr9:g.21970999T>G (hg19) ; chr9:g.21971000T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971000T>G , CM000671.2:g.21971000T>G	GRCh38
NC_000009.11:g.21970999T>G , CM000671.1:g.21970999T>G	GRCh37
NC_000009.10:g.21960999T>G	NCBI36
NG_007485.1:g.28492A>C , LRG_11:g.28492A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.359A>C MANE Select	ENSP00000307101.5:p.Glu120Ala
ENST00000404796.3:c.348-58433T>G	ENSP00000385916.2:n.348-58433T>G
ENST00000579755.2:c.*3A>C MANE Plus Clinical	ENSP00000462950.1:n.*3A>C
ENST00000304494.9:c.359A>C	ENSP00000307101.5:p.Glu120Ala
ENST00000361570.4:c.401A>C	ENSP00000355153.4:p.Glu134Ala
ENST00000380150.2:n.333A>C
ENST00000380151.3:c.633A>C	ENSP00000369496.3:n.633A>C
ENST00000404796.2:c.348-58433T>G	ENSP00000385916.2:n.348-58433T>G
ENST00000479692.2:c.206A>C	ENSP00000466887.1:p.Glu69Ala
ENST00000494262.5:c.206A>C	ENSP00000464952.1:p.Glu69Ala
ENST00000497750.1:c.206A>C	ENSP00000468510.1:p.Glu69Ala
ENST00000498124.1:c.359A>C	ENSP00000418915.1:p.Glu120Ala
ENST00000498628.6:c.206A>C	ENSP00000467857.1:p.Glu69Ala
ENST00000530628.2:c.*3A>C	ENSP00000432664.2:n.*3A>C
ENST00000578845.2:c.206A>C	ENSP00000467390.1:p.Glu69Ala
ENST00000579122.1:c.359A>C	ENSP00000464202.1:p.Glu120Ala
ENST00000579755.1:c.*3A>C	ENSP00000462950.1:n.*3A>C
NM_000077.4:c.359A>C , LRG_11t1:c.359A>C	NP_000068.1:p.Glu120Ala
NM_001195132.1:c.359A>C	NP_001182061.1:p.Glu120Ala
NM_058195.3:c.*3A>C , LRG_11t2:c.*3A>C	NP_478102.2:n.*3A>C
NM_058197.4:c.633A>C	NP_478104.2:n.633A>C
XM_005251343.1:c.206A>C	XP_005251400.1:p.Glu69Ala
XM_011517675.1:c.359A>C	XP_011515977.1:p.Glu120Ala
XM_011517676.1:c.359A>C	XP_011515978.1:p.Glu120Ala
XM_011517679.1:c.206A>C	XP_011515981.1:p.Glu69Ala
XR_929159.1:n.760A>C
XR_929161.1:n.549A>C
XR_929162.1:n.549A>C
XR_929163.1:n.498A>C
XR_929164.1:n.281A>C
NM_001363763.1:c.206A>C	NP_001350692.1:p.Glu69Ala
XM_011517675.2:c.359A>C	XP_011515977.1:p.Glu120Ala
XM_011517676.2:c.359A>C	XP_011515978.1:p.Glu120Ala
XR_929159.2:n.689A>C
NM_001363763.2:c.206A>C	NP_001350692.1:p.Glu69Ala
NM_000077.5:c.359A>C MANE Select	NP_000068.1:p.Glu120Ala
NM_001195132.2:c.359A>C	NP_001182061.1:p.Glu120Ala
NM_058195.4:c.*3A>C MANE Plus Clinical	NP_478102.2:n.*3A>C
NM_058197.5:c.*282A>C	NP_478104.2:n.*282A>C