Canonical Allele Identifier: CA373085940

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 1735601
• ClinVar RCV Id: RCV002355545 ; RCV003475344 ; RCV003775752
• dbSNP Id: rs1554653923
• COSMIC: COSM13265
• MyVariant Identifiers: chr9:g.21970973A>G (hg19) ; chr9:g.21970974A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21970974A>G , CM000671.2:g.21970974A>G	GRCh38
NC_000009.11:g.21970973A>G , CM000671.1:g.21970973A>G	GRCh37
NC_000009.10:g.21960973A>G	NCBI36
NG_007485.1:g.28518T>C , LRG_11:g.28518T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.385T>C MANE Select	ENSP00000307101.5:p.Tyr129His
ENST00000404796.3:c.348-58459A>G	ENSP00000385916.2:n.348-58459A>G
ENST00000579755.2:c.*29T>C MANE Plus Clinical	ENSP00000462950.1:n.*29T>C
ENST00000304494.9:c.385T>C	ENSP00000307101.5:p.Tyr129His
ENST00000361570.4:c.427T>C	ENSP00000355153.4:p.Tyr143His
ENST00000380150.2:n.359T>C
ENST00000380151.3:c.659T>C	ENSP00000369496.3:n.659T>C
ENST00000404796.2:c.348-58459A>G	ENSP00000385916.2:n.348-58459A>G
ENST00000479692.2:c.232T>C	ENSP00000466887.1:p.Tyr78His
ENST00000494262.5:c.232T>C	ENSP00000464952.1:p.Tyr78His
ENST00000497750.1:c.232T>C	ENSP00000468510.1:p.Tyr78His
ENST00000498124.1:c.385T>C	ENSP00000418915.1:p.Tyr129His
ENST00000498628.6:c.232T>C	ENSP00000467857.1:p.Tyr78His
ENST00000530628.2:c.*27+2T>C	ENSP00000432664.2:n.*27+2T>C
ENST00000578845.2:c.232T>C	ENSP00000467390.1:p.Tyr78His
ENST00000579122.1:c.383+2T>C	ENSP00000464202.1:n.383+2T>C
ENST00000579755.1:c.*29T>C	ENSP00000462950.1:n.*29T>C
NM_000077.4:c.385T>C , LRG_11t1:c.385T>C	NP_000068.1:p.Tyr129His
NM_001195132.1:c.385T>C	NP_001182061.1:p.Tyr129His
NM_058195.3:c.*29T>C , LRG_11t2:c.*29T>C	NP_478102.2:n.*29T>C
NM_058197.4:c.659T>C	NP_478104.2:n.659T>C
XM_005251343.1:c.232T>C	XP_005251400.1:p.Tyr78His
XM_011517675.1:c.385T>C	XP_011515977.1:p.Tyr129His
XM_011517676.1:c.385T>C	XP_011515978.1:p.Tyr129His
XM_011517679.1:c.232T>C	XP_011515981.1:p.Tyr78His
XR_929159.1:n.786T>C
XR_929161.1:n.575T>C
XR_929162.1:n.575T>C
XR_929163.1:n.524T>C
XR_929164.1:n.307T>C
NM_001363763.1:c.232T>C	NP_001350692.1:p.Tyr78His
XM_011517675.2:c.385T>C	XP_011515977.1:p.Tyr129His
XM_011517676.2:c.385T>C	XP_011515978.1:p.Tyr129His
XR_929159.2:n.715T>C
NM_001363763.2:c.232T>C	NP_001350692.1:p.Tyr78His
NM_000077.5:c.385T>C MANE Select	NP_000068.1:p.Tyr129His
NM_001195132.2:c.385T>C	NP_001182061.1:p.Tyr129His
NM_058195.4:c.*29T>C MANE Plus Clinical	NP_478102.2:n.*29T>C
NM_058197.5:c.*308T>C	NP_478104.2:n.*308T>C