Canonical Allele Identifier: CA373085823

Gene: CDKN2A

Linked Data

• gnomAD v4: 9-21970911-C-T
• COSMIC: COSM753750 ; COSM753751 ; COSM4860714
• MyVariant Identifiers: chr9:g.21970910C>T (hg19) ; chr9:g.21970911C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21970911C>T , CM000671.2:g.21970911C>T	GRCh38
NC_000009.11:g.21970910C>T , CM000671.1:g.21970910C>T	GRCh37
NC_000009.10:g.21960910C>T	NCBI36
NG_007485.1:g.28581G>A , LRG_11:g.28581G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.448G>A MANE Select	ENSP00000307101.5:p.Gly150Ser
ENST00000404796.3:c.348-58522C>T	ENSP00000385916.2:n.348-58522C>T
ENST00000579755.2:c.*92G>A MANE Plus Clinical	ENSP00000462950.1:n.*92G>A
ENST00000304494.9:c.448G>A	ENSP00000307101.5:p.Gly150Ser
ENST00000361570.4:c.490G>A	ENSP00000355153.4:p.Gly164Ser
ENST00000380150.2:n.422G>A
ENST00000380151.3:c.722G>A	ENSP00000369496.3:n.722G>A
ENST00000404796.2:c.348-58522C>T	ENSP00000385916.2:n.348-58522C>T
ENST00000479692.2:c.295G>A	ENSP00000466887.1:p.Gly99Ser
ENST00000494262.5:c.295G>A	ENSP00000464952.1:p.Gly99Ser
ENST00000497750.1:c.295G>A	ENSP00000468510.1:p.Gly99Ser
ENST00000498124.1:c.448G>A	ENSP00000418915.1:p.Gly150Ser
ENST00000498628.6:c.295G>A	ENSP00000467857.1:p.Gly99Ser
ENST00000530628.2:c.*27+65G>A	ENSP00000432664.2:n.*27+65G>A
ENST00000578845.2:c.295G>A	ENSP00000467390.1:p.Gly99Ser
ENST00000579122.1:c.383+65G>A	ENSP00000464202.1:n.383+65G>A
ENST00000579755.1:c.*92G>A	ENSP00000462950.1:n.*92G>A
NM_000077.4:c.448G>A , LRG_11t1:c.448G>A	NP_000068.1:p.Gly150Ser
NM_001195132.1:c.448G>A	NP_001182061.1:p.Gly150Ser
NM_058195.3:c.*92G>A , LRG_11t2:c.*92G>A	NP_478102.2:n.*92G>A
NM_058197.4:c.722G>A	NP_478104.2:n.722G>A
XM_005251343.1:c.295G>A	XP_005251400.1:p.Gly99Ser
XM_011517675.1:c.448G>A	XP_011515977.1:p.Gly150Ser
XM_011517676.1:c.448G>A	XP_011515978.1:p.Gly150Ser
XM_011517679.1:c.295G>A	XP_011515981.1:p.Gly99Ser
XR_929159.1:n.849G>A
XR_929161.1:n.638G>A
XR_929162.1:n.638G>A
XR_929163.1:n.587G>A
XR_929164.1:n.370G>A
NM_001363763.1:c.295G>A	NP_001350692.1:p.Gly99Ser
XM_011517675.2:c.448G>A	XP_011515977.1:p.Gly150Ser
XM_011517676.2:c.448G>A	XP_011515978.1:p.Gly150Ser
XR_929159.2:n.778G>A
NM_001363763.2:c.295G>A	NP_001350692.1:p.Gly99Ser
NM_000077.5:c.448G>A MANE Select	NP_000068.1:p.Gly150Ser
NM_001195132.2:c.448G>A	NP_001182061.1:p.Gly150Ser
NM_058195.4:c.*92G>A MANE Plus Clinical	NP_478102.2:n.*92G>A
NM_058197.5:c.*371G>A	NP_478104.2:n.*371G>A