Canonical Allele Identifier: CA373085881

Gene: CDKN2A

Linked Data

• dbSNP Id: rs1587330504
• COSMIC: COSM13775
• MyVariant Identifiers: chr9:g.21970940T>A (hg19) ; chr9:g.21970941T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21970941T>A , CM000671.2:g.21970941T>A	GRCh38
NC_000009.11:g.21970940T>A , CM000671.1:g.21970940T>A	GRCh37
NC_000009.10:g.21960940T>A	NCBI36
NG_007485.1:g.28551A>T , LRG_11:g.28551A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.418A>T MANE Select	ENSP00000307101.5:p.Ser140Cys
ENST00000404796.3:c.348-58492T>A	ENSP00000385916.2:n.348-58492T>A
ENST00000579755.2:c.*62A>T MANE Plus Clinical	ENSP00000462950.1:n.*62A>T
ENST00000304494.9:c.418A>T	ENSP00000307101.5:p.Ser140Cys
ENST00000361570.4:c.460A>T	ENSP00000355153.4:p.Ser154Cys
ENST00000380150.2:n.392A>T
ENST00000380151.3:c.692A>T	ENSP00000369496.3:n.692A>T
ENST00000404796.2:c.348-58492T>A	ENSP00000385916.2:n.348-58492T>A
ENST00000479692.2:c.265A>T	ENSP00000466887.1:p.Ser89Cys
ENST00000494262.5:c.265A>T	ENSP00000464952.1:p.Ser89Cys
ENST00000497750.1:c.265A>T	ENSP00000468510.1:p.Ser89Cys
ENST00000498124.1:c.418A>T	ENSP00000418915.1:p.Ser140Cys
ENST00000498628.6:c.265A>T	ENSP00000467857.1:p.Ser89Cys
ENST00000530628.2:c.*27+35A>T	ENSP00000432664.2:n.*27+35A>T
ENST00000578845.2:c.265A>T	ENSP00000467390.1:p.Ser89Cys
ENST00000579122.1:c.383+35A>T	ENSP00000464202.1:n.383+35A>T
ENST00000579755.1:c.*62A>T	ENSP00000462950.1:n.*62A>T
NM_000077.4:c.418A>T , LRG_11t1:c.418A>T	NP_000068.1:p.Ser140Cys
NM_001195132.1:c.418A>T	NP_001182061.1:p.Ser140Cys
NM_058195.3:c.*62A>T , LRG_11t2:c.*62A>T	NP_478102.2:n.*62A>T
NM_058197.4:c.692A>T	NP_478104.2:n.692A>T
XM_005251343.1:c.265A>T	XP_005251400.1:p.Ser89Cys
XM_011517675.1:c.418A>T	XP_011515977.1:p.Ser140Cys
XM_011517676.1:c.418A>T	XP_011515978.1:p.Ser140Cys
XM_011517679.1:c.265A>T	XP_011515981.1:p.Ser89Cys
XR_929159.1:n.819A>T
XR_929161.1:n.608A>T
XR_929162.1:n.608A>T
XR_929163.1:n.557A>T
XR_929164.1:n.340A>T
NM_001363763.1:c.265A>T	NP_001350692.1:p.Ser89Cys
XM_011517675.2:c.418A>T	XP_011515977.1:p.Ser140Cys
XM_011517676.2:c.418A>T	XP_011515978.1:p.Ser140Cys
XR_929159.2:n.748A>T
NM_001363763.2:c.265A>T	NP_001350692.1:p.Ser89Cys
NM_000077.5:c.418A>T MANE Select	NP_000068.1:p.Ser140Cys
NM_001195132.2:c.418A>T	NP_001182061.1:p.Ser140Cys
NM_058195.4:c.*62A>T MANE Plus Clinical	NP_478102.2:n.*62A>T
NM_058197.5:c.*341A>T	NP_478104.2:n.*341A>T