Canonical Allele Identifier: CA16618824

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 419130
• ClinVar RCV Id: RCV000483515 ; RCV000538411 ; RCV000776228 ; RCV001193449
• dbSNP Id: rs779913365
• gnomAD v2: 9-21971015-C-A
• gnomAD v3: 9-21971016-C-A
• gnomAD v4: 9-21971016-C-A
• COSMIC: COSM13227 ; COSM308277 ; COSM308278
• MyVariant Identifiers: chr9:g.21971015C>A (hg19) ; chr9:g.21971016C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21971016C>A , CM000671.2:g.21971016C>A	GRCh38
NC_000009.11:g.21971015C>A , CM000671.1:g.21971015C>A	GRCh37
NC_000009.10:g.21961015C>A	NCBI36
NG_007485.1:g.28476G>T , LRG_11:g.28476G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.343G>T MANE Select	ENSP00000307101.5:p.Val115Leu
ENST00000404796.3:c.348-58417C>A	ENSP00000385916.2:n.348-58417C>A
ENST00000579755.2:c.386G>T MANE Plus Clinical	ENSP00000462950.1:p.Arg129Leu
ENST00000304494.9:c.343G>T	ENSP00000307101.5:p.Val115Leu
ENST00000361570.4:c.385G>T	ENSP00000355153.4:p.Val129Leu
ENST00000380150.2:n.317G>T
ENST00000380151.3:c.617G>T	ENSP00000369496.3:n.617G>T
ENST00000404796.2:c.348-58417C>A	ENSP00000385916.2:n.348-58417C>A
ENST00000479692.2:c.190G>T	ENSP00000466887.1:p.Val64Leu
ENST00000494262.5:c.190G>T	ENSP00000464952.1:p.Val64Leu
ENST00000497750.1:c.190G>T	ENSP00000468510.1:p.Val64Leu
ENST00000498124.1:c.343G>T	ENSP00000418915.1:p.Val115Leu
ENST00000498628.6:c.190G>T	ENSP00000467857.1:p.Val64Leu
ENST00000530628.2:c.386G>T	ENSP00000432664.2:p.Arg129Leu
ENST00000578845.2:c.190G>T	ENSP00000467390.1:p.Val64Leu
ENST00000579122.1:c.343G>T	ENSP00000464202.1:p.Val115Leu
ENST00000579755.1:c.386G>T	ENSP00000462950.1:p.Arg129Leu
NM_000077.4:c.343G>T , LRG_11t1:c.343G>T	NP_000068.1:p.Val115Leu
NM_001195132.1:c.343G>T	NP_001182061.1:p.Val115Leu
NM_058195.3:c.386G>T , LRG_11t2:c.386G>T	NP_478102.2:p.Arg129Leu
NM_058197.4:c.617G>T	NP_478104.2:n.617G>T
XM_005251343.1:c.190G>T	XP_005251400.1:p.Val64Leu
XM_011517675.1:c.343G>T	XP_011515977.1:p.Val115Leu
XM_011517676.1:c.343G>T	XP_011515978.1:p.Val115Leu
XM_011517679.1:c.190G>T	XP_011515981.1:p.Val64Leu
XR_929159.1:n.744G>T
XR_929161.1:n.533G>T
XR_929162.1:n.533G>T
XR_929163.1:n.482G>T
XR_929164.1:n.265G>T
NM_001363763.1:c.190G>T	NP_001350692.1:p.Val64Leu
XM_011517675.2:c.343G>T	XP_011515977.1:p.Val115Leu
XM_011517676.2:c.343G>T	XP_011515978.1:p.Val115Leu
XR_929159.2:n.673G>T
NM_001363763.2:c.190G>T	NP_001350692.1:p.Val64Leu
NM_000077.5:c.343G>T MANE Select	NP_000068.1:p.Val115Leu
NM_001195132.2:c.343G>T	NP_001182061.1:p.Val115Leu
NM_058195.4:c.386G>T MANE Plus Clinical	NP_478102.2:p.Arg129Leu
NM_058197.5:c.*266G>T	NP_478104.2:n.*266G>T