Canonical Allele Identifier: CA5012308

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 483336
• ClinVar RCV Id: RCV000565411 ; RCV000698266 ; RCV003441953
• dbSNP Id: rs730881673
• ExAC: 9:21974695 G / GT
• gnomAD v2: 9-21974695-G-GT
• COSMIC: COSN503628 ; COSM3092331 ; COSM3092332 ; COSM3092333
• MyVariant Identifiers: chr9:g.21974696dup (hg19) ; chr9:g.21974695_21974696insT (hg19) ; chr9:g.21974697dup (hg38) ; chr9:g.21974696_21974697insT (hg38)
• PubMed: PMID:9699728 ; PMID:16234564 ; PMID:17218939 ; PMID:25064638

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21974697dup , CM000671.2:g.21974697dup	GRCh38
NC_000009.11:g.21974696dup , CM000671.1:g.21974696dup	GRCh37
NC_000009.10:g.21964696dup	NCBI36
NG_007485.1:g.24795dup , LRG_11:g.24795dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.131dup MANE Select	ENSP00000307101.5:p.Tyr44Ter
ENST00000404796.3:c.348-54736dup	ENSP00000385916.2:n.348-54736dup
ENST00000579755.2:c.194-3489dup MANE Plus Clinical	ENSP00000462950.1:n.194-3489dup
ENST00000304494.9:c.131dup	ENSP00000307101.5:p.Tyr44Ter
ENST00000361570.4:c.194-3489dup	ENSP00000355153.4:n.194-3489dup
ENST00000380151.3:c.131dup	ENSP00000369496.3:p.Tyr44Ter
ENST00000404796.2:c.348-54736dup	ENSP00000385916.2:n.348-54736dup
ENST00000494262.5:c.-3-3489dup	ENSP00000464952.1:n.-3-3489dup
ENST00000498124.1:c.131dup	ENSP00000418915.1:p.Tyr44Ter
ENST00000498628.6:c.-3-3489dup	ENSP00000467857.1:n.-3-3489dup
ENST00000530628.2:c.194-3489dup	ENSP00000432664.2:n.194-3489dup
ENST00000579122.1:c.131dup	ENSP00000464202.1:p.Tyr44Ter
ENST00000579755.1:c.194-3489dup	ENSP00000462950.1:n.194-3489dup
NM_000077.4:c.131dup , LRG_11t1:c.131dup	NP_000068.1:p.Tyr44Ter
NM_001195132.1:c.131dup	NP_001182061.1:p.Tyr44Ter
NM_058195.3:c.194-3489dup , LRG_11t2:c.194-3489dup	NP_478102.2:n.194-3489dup
NM_058197.4:c.131dup	NP_478104.2:p.Tyr44Ter
XM_011517675.1:c.131dup	XP_011515977.1:p.Tyr44Ter
XM_011517676.1:c.131dup	XP_011515978.1:p.Tyr44Ter
XM_011517679.1:c.-3-3489dup	XP_011515981.1:n.-3-3489dup
XR_929159.1:n.532dup
XR_929161.1:n.341-3489dup
XR_929162.1:n.341-3489dup
XR_929163.1:n.290-3489dup
NM_001363763.1:c.-3-3489dup	NP_001350692.1:n.-3-3489dup
XM_011517675.2:c.131dup	XP_011515977.1:p.Tyr44Ter
XM_011517676.2:c.131dup	XP_011515978.1:p.Tyr44Ter
XR_929159.2:n.461dup
NM_001363763.2:c.-3-3489dup	NP_001350692.1:n.-3-3489dup
NM_000077.5:c.131dup MANE Select	NP_000068.1:p.Tyr44Ter
NM_001195132.2:c.131dup	NP_001182061.1:p.Tyr44Ter
NM_058195.4:c.194-3489dup MANE Plus Clinical	NP_478102.2:n.194-3489dup
NM_058197.5:c.131dup	NP_478104.2:p.Tyr44Ter