Canonical Allele Identifier: CA5012158

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 245681
• ClinVar RCV Id: RCV000235756 ; RCV000462732 ; RCV000662465 ; RCV000775628 ; RCV000780109
• dbSNP Id: rs754195015
• ExAC: 9:21970931 C / T
• gnomAD v2: 9-21970931-C-T
• gnomAD v4: 9-21970932-C-T
• COSMIC: COSM13977
• MyVariant Identifiers: chr9:g.21970931C>T (hg19) ; chr9:g.21970932C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21970932C>T , CM000671.2:g.21970932C>T	GRCh38
NC_000009.11:g.21970931C>T , CM000671.1:g.21970931C>T	GRCh37
NC_000009.10:g.21960931C>T	NCBI36
NG_007485.1:g.28560G>A , LRG_11:g.28560G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.427G>A MANE Select	ENSP00000307101.5:p.Ala143Thr
ENST00000404796.3:c.348-58501C>T	ENSP00000385916.2:n.348-58501C>T
ENST00000579755.2:c.*71G>A MANE Plus Clinical	ENSP00000462950.1:n.*71G>A
ENST00000304494.9:c.427G>A	ENSP00000307101.5:p.Ala143Thr
ENST00000361570.4:c.469G>A	ENSP00000355153.4:p.Ala157Thr
ENST00000380150.2:n.401G>A
ENST00000380151.3:c.701G>A	ENSP00000369496.3:n.701G>A
ENST00000404796.2:c.348-58501C>T	ENSP00000385916.2:n.348-58501C>T
ENST00000479692.2:c.274G>A	ENSP00000466887.1:p.Ala92Thr
ENST00000494262.5:c.274G>A	ENSP00000464952.1:p.Ala92Thr
ENST00000497750.1:c.274G>A	ENSP00000468510.1:p.Ala92Thr
ENST00000498124.1:c.427G>A	ENSP00000418915.1:p.Ala143Thr
ENST00000498628.6:c.274G>A	ENSP00000467857.1:p.Ala92Thr
ENST00000530628.2:c.*27+44G>A	ENSP00000432664.2:n.*27+44G>A
ENST00000578845.2:c.274G>A	ENSP00000467390.1:p.Ala92Thr
ENST00000579122.1:c.383+44G>A	ENSP00000464202.1:n.383+44G>A
ENST00000579755.1:c.*71G>A	ENSP00000462950.1:n.*71G>A
NM_000077.4:c.427G>A , LRG_11t1:c.427G>A	NP_000068.1:p.Ala143Thr
NM_001195132.1:c.427G>A	NP_001182061.1:p.Ala143Thr
NM_058195.3:c.*71G>A , LRG_11t2:c.*71G>A	NP_478102.2:n.*71G>A
NM_058197.4:c.701G>A	NP_478104.2:n.701G>A
XM_005251343.1:c.274G>A	XP_005251400.1:p.Ala92Thr
XM_011517675.1:c.427G>A	XP_011515977.1:p.Ala143Thr
XM_011517676.1:c.427G>A	XP_011515978.1:p.Ala143Thr
XM_011517679.1:c.274G>A	XP_011515981.1:p.Ala92Thr
XR_929159.1:n.828G>A
XR_929161.1:n.617G>A
XR_929162.1:n.617G>A
XR_929163.1:n.566G>A
XR_929164.1:n.349G>A
NM_001363763.1:c.274G>A	NP_001350692.1:p.Ala92Thr
XM_011517675.2:c.427G>A	XP_011515977.1:p.Ala143Thr
XM_011517676.2:c.427G>A	XP_011515978.1:p.Ala143Thr
XR_929159.2:n.757G>A
NM_001363763.2:c.274G>A	NP_001350692.1:p.Ala92Thr
NM_000077.5:c.427G>A MANE Select	NP_000068.1:p.Ala143Thr
NM_001195132.2:c.427G>A	NP_001182061.1:p.Ala143Thr
NM_058195.4:c.*71G>A MANE Plus Clinical	NP_478102.2:n.*71G>A
NM_058197.5:c.*350G>A	NP_478104.2:n.*350G>A