Canonical Allele Identifier: CA1122183930

Gene: CDKN2A

Linked Data

• dbSNP Id: rs1819497526
• gnomAD v3: 9-21968130-A-G
• gnomAD v4: 9-21968130-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21968130A>G , CM000671.2:g.21968130A>G	GRCh38
NC_000009.11:g.21968129A>G , CM000671.1:g.21968129A>G	GRCh37
NC_000009.10:g.21958129A>G	NCBI36
NG_007485.1:g.31362T>C , LRG_11:g.31362T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.*99T>C MANE Select	ENSP00000307101.5:n.*99T>C
ENST00000404796.3:c.348-61303A>G	ENSP00000385916.2:n.348-61303A>G
ENST00000579755.2:c.*214T>C MANE Plus Clinical	ENSP00000462950.1:n.*214T>C
ENST00000304494.9:c.*99T>C	ENSP00000307101.5:n.*99T>C
ENST00000361570.4:c.*99T>C	ENSP00000355153.4:n.*99T>C
ENST00000404796.2:c.348-61303A>G	ENSP00000385916.2:n.348-61303A>G
ENST00000498124.1:c.*263T>C	ENSP00000418915.1:n.*263T>C
ENST00000498628.6:c.*99T>C	ENSP00000467857.1:n.*99T>C
ENST00000530628.2:c.*140T>C	ENSP00000432664.2:n.*140T>C
ENST00000578845.2:c.*99T>C	ENSP00000467390.1:n.*99T>C
ENST00000579122.1:c.*79T>C	ENSP00000464202.1:n.*79T>C
ENST00000579755.1:c.*214T>C	ENSP00000462950.1:n.*214T>C
NM_000077.4:c.*99T>C , LRG_11t1:c.*99T>C	NP_000068.1:n.*99T>C
NM_001195132.1:c.*263T>C	NP_001182061.1:n.*263T>C
NM_058195.3:c.*214T>C , LRG_11t2:c.*214T>C	NP_478102.2:n.*214T>C
NM_058197.4:c.844T>C	NP_478104.2:n.844T>C
XM_005251343.1:c.*99T>C	XP_005251400.1:n.*99T>C
XM_011517679.1:c.*99T>C	XP_011515981.1:n.*99T>C
NM_001363763.1:c.*99T>C	NP_001350692.1:n.*99T>C
NM_001363763.2:c.*99T>C	NP_001350692.1:n.*99T>C
NM_000077.5:c.*99T>C MANE Select	NP_000068.1:n.*99T>C
NM_001195132.2:c.*263T>C	NP_001182061.1:n.*263T>C
NM_058195.4:c.*214T>C MANE Plus Clinical	NP_478102.2:n.*214T>C
NM_058197.5:c.*493T>C	NP_478104.2:n.*493T>C