Canonical Allele Identifier: CA190743114

Gene: CDKN2A

Linked Data

• dbSNP Id: rs557334066
• gnomAD v3: 9-21986755-T-A
• gnomAD v4: 9-21986755-T-A
• MyVariant Identifiers: chr9:g.21986754T>A (hg19) ; chr9:g.21986755T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21986755T>A , CM000671.2:g.21986755T>A	GRCh38
NC_000009.11:g.21986754T>A , CM000671.1:g.21986754T>A	GRCh37
NC_000009.10:g.21976754T>A	NCBI36
NG_007485.1:g.12737A>T , LRG_11:g.12737A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000404796.3:c.348-42678T>A	ENSP00000385916.2:n.348-42678T>A
ENST00000579755.2:c.193+7384A>T MANE Plus Clinical	ENSP00000462950.1:n.193+7384A>T
ENST00000361570.4:c.193+7384A>T	ENSP00000355153.4:n.193+7384A>T
ENST00000404796.2:c.348-42678T>A	ENSP00000385916.2:n.348-42678T>A
ENST00000494262.5:c.-4+7127A>T	ENSP00000464952.1:n.-4+7127A>T
ENST00000498628.6:c.-4+8066A>T	ENSP00000467857.1:n.-4+8066A>T
ENST00000530628.2:c.193+7384A>T	ENSP00000432664.2:n.193+7384A>T
ENST00000579755.1:c.193+7384A>T	ENSP00000462950.1:n.193+7384A>T
NM_058195.3:c.193+7384A>T , LRG_11t2:c.193+7384A>T	NP_478102.2:n.193+7384A>T
XM_011517679.1:c.-4+8066A>T	XP_011515981.1:n.-4+8066A>T
XR_929161.1:n.340+7384A>T
XR_929162.1:n.340+7384A>T
XR_929163.1:n.289+7384A>T
NM_001363763.1:c.-4+8066A>T	NP_001350692.1:n.-4+8066A>T
NM_001363763.2:c.-4+8066A>T	NP_001350692.1:n.-4+8066A>T
NM_058195.4:c.193+7384A>T MANE Plus Clinical	NP_478102.2:n.193+7384A>T