Canonical Allele Identifier: CA373085898

Gene: CDKN2A

Linked Data

• dbSNP Id: rs2131092258
• gnomAD v4: 9-21970950-T-G
• COSMIC: COSM13640
• MyVariant Identifiers: chr9:g.21970949T>G (hg19) ; chr9:g.21970950T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21970950T>G , CM000671.2:g.21970950T>G	GRCh38
NC_000009.11:g.21970949T>G , CM000671.1:g.21970949T>G	GRCh37
NC_000009.10:g.21960949T>G	NCBI36
NG_007485.1:g.28542A>C , LRG_11:g.28542A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.409A>C MANE Select	ENSP00000307101.5:p.Thr137Pro
ENST00000404796.3:c.348-58483T>G	ENSP00000385916.2:n.348-58483T>G
ENST00000579755.2:c.*53A>C MANE Plus Clinical	ENSP00000462950.1:n.*53A>C
ENST00000304494.9:c.409A>C	ENSP00000307101.5:p.Thr137Pro
ENST00000361570.4:c.451A>C	ENSP00000355153.4:p.Thr151Pro
ENST00000380150.2:n.383A>C
ENST00000380151.3:c.683A>C	ENSP00000369496.3:n.683A>C
ENST00000404796.2:c.348-58483T>G	ENSP00000385916.2:n.348-58483T>G
ENST00000479692.2:c.256A>C	ENSP00000466887.1:p.Thr86Pro
ENST00000494262.5:c.256A>C	ENSP00000464952.1:p.Thr86Pro
ENST00000497750.1:c.256A>C	ENSP00000468510.1:p.Thr86Pro
ENST00000498124.1:c.409A>C	ENSP00000418915.1:p.Thr137Pro
ENST00000498628.6:c.256A>C	ENSP00000467857.1:p.Thr86Pro
ENST00000530628.2:c.*27+26A>C	ENSP00000432664.2:n.*27+26A>C
ENST00000578845.2:c.256A>C	ENSP00000467390.1:p.Thr86Pro
ENST00000579122.1:c.383+26A>C	ENSP00000464202.1:n.383+26A>C
ENST00000579755.1:c.*53A>C	ENSP00000462950.1:n.*53A>C
NM_000077.4:c.409A>C , LRG_11t1:c.409A>C	NP_000068.1:p.Thr137Pro
NM_001195132.1:c.409A>C	NP_001182061.1:p.Thr137Pro
NM_058195.3:c.*53A>C , LRG_11t2:c.*53A>C	NP_478102.2:n.*53A>C
NM_058197.4:c.683A>C	NP_478104.2:n.683A>C
XM_005251343.1:c.256A>C	XP_005251400.1:p.Thr86Pro
XM_011517675.1:c.409A>C	XP_011515977.1:p.Thr137Pro
XM_011517676.1:c.409A>C	XP_011515978.1:p.Thr137Pro
XM_011517679.1:c.256A>C	XP_011515981.1:p.Thr86Pro
XR_929159.1:n.810A>C
XR_929161.1:n.599A>C
XR_929162.1:n.599A>C
XR_929163.1:n.548A>C
XR_929164.1:n.331A>C
NM_001363763.1:c.256A>C	NP_001350692.1:p.Thr86Pro
XM_011517675.2:c.409A>C	XP_011515977.1:p.Thr137Pro
XM_011517676.2:c.409A>C	XP_011515978.1:p.Thr137Pro
XR_929159.2:n.739A>C
NM_001363763.2:c.256A>C	NP_001350692.1:p.Thr86Pro
NM_000077.5:c.409A>C MANE Select	NP_000068.1:p.Thr137Pro
NM_001195132.2:c.409A>C	NP_001182061.1:p.Thr137Pro
NM_058195.4:c.*53A>C MANE Plus Clinical	NP_478102.2:n.*53A>C
NM_058197.5:c.*332A>C	NP_478104.2:n.*332A>C