Canonical Allele Identifier: CA862193457

Gene: CDKN2A

Linked Data

• dbSNP Id: rs1415627358
• gnomAD v3: 9-21968013-A-G
• gnomAD v4: 9-21968013-A-G
• MyVariant Identifiers: chr9:g.21968012A>G (hg19) ; chr9:g.21968013A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21968013A>G , CM000671.2:g.21968013A>G	GRCh38
NC_000009.11:g.21968012A>G , CM000671.1:g.21968012A>G	GRCh37
NC_000009.10:g.21958012A>G	NCBI36
NG_007485.1:g.31479T>C , LRG_11:g.31479T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.*216T>C MANE Select	ENSP00000307101.5:n.*216T>C
ENST00000404796.3:c.348-61420A>G	ENSP00000385916.2:n.348-61420A>G
ENST00000579755.2:c.*331T>C MANE Plus Clinical	ENSP00000462950.1:n.*331T>C
ENST00000304494.9:c.*216T>C	ENSP00000307101.5:n.*216T>C
ENST00000361570.4:c.*216T>C	ENSP00000355153.4:n.*216T>C
ENST00000404796.2:c.348-61420A>G	ENSP00000385916.2:n.348-61420A>G
ENST00000530628.2:c.*257T>C	ENSP00000432664.2:n.*257T>C
ENST00000578845.2:c.*216T>C	ENSP00000467390.1:n.*216T>C
ENST00000579122.1:c.*196T>C	ENSP00000464202.1:n.*196T>C
ENST00000579755.1:c.*331T>C	ENSP00000462950.1:n.*331T>C
NM_000077.4:c.*216T>C , LRG_11t1:c.*216T>C	NP_000068.1:n.*216T>C
NM_001195132.1:c.*380T>C	NP_001182061.1:n.*380T>C
NM_058195.3:c.*331T>C , LRG_11t2:c.*331T>C	NP_478102.2:n.*331T>C
NM_058197.4:c.961T>C	NP_478104.2:n.961T>C
XM_005251343.1:c.*216T>C	XP_005251400.1:n.*216T>C
XM_011517679.1:c.*216T>C	XP_011515981.1:n.*216T>C
NM_001363763.1:c.*216T>C	NP_001350692.1:n.*216T>C
NM_001363763.2:c.*216T>C	NP_001350692.1:n.*216T>C
NM_000077.5:c.*216T>C MANE Select	NP_000068.1:n.*216T>C
NM_001195132.2:c.*380T>C	NP_001182061.1:n.*380T>C
NM_058195.4:c.*331T>C MANE Plus Clinical	NP_478102.2:n.*331T>C
NM_058197.5:c.*610T>C	NP_478104.2:n.*610T>C