Canonical Allele Identifier: CA373085065

Gene: CDKN2A

Linked Data

• ClinVar Variation Id: 825077
• ClinVar RCV Id: RCV001022858
• dbSNP Id: rs1471079871
• gnomAD v4: 9-21968235-G-C
• MyVariant Identifiers: chr9:g.21968234G>C (hg19) ; chr9:g.21968235G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21968235G>C , CM000671.2:g.21968235G>C	GRCh38
NC_000009.11:g.21968234G>C , CM000671.1:g.21968234G>C	GRCh37
NC_000009.10:g.21958234G>C	NCBI36
NG_007485.1:g.31257C>G , LRG_11:g.31257C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000304494.10:c.465C>G MANE Select	ENSP00000307101.5:p.Pro155=
ENST00000404796.3:c.348-61198G>C	ENSP00000385916.2:n.348-61198G>C
ENST00000579755.2:c.*109C>G MANE Plus Clinical	ENSP00000462950.1:n.*109C>G
ENST00000304494.9:c.465C>G	ENSP00000307101.5:p.Pro155=
ENST00000361570.4:c.507C>G	ENSP00000355153.4:p.Pro169=
ENST00000380151.3:c.739C>G	ENSP00000369496.3:n.739C>G
ENST00000404796.2:c.348-61198G>C	ENSP00000385916.2:n.348-61198G>C
ENST00000494262.5:c.312C>G	ENSP00000464952.1:p.Pro104=
ENST00000498124.1:c.*158C>G	ENSP00000418915.1:n.*158C>G
ENST00000498628.6:c.312C>G	ENSP00000467857.1:p.Pro104=
ENST00000530628.2:c.*35C>G	ENSP00000432664.2:n.*35C>G
ENST00000578845.2:c.312C>G	ENSP00000467390.1:p.Pro104=
ENST00000579122.1:c.391C>G	ENSP00000464202.1:p.Arg131Gly
ENST00000579755.1:c.*109C>G	ENSP00000462950.1:n.*109C>G
NM_000077.4:c.465C>G , LRG_11t1:c.465C>G	NP_000068.1:p.Pro155=
NM_001195132.1:c.*158C>G	NP_001182061.1:n.*158C>G
NM_058195.3:c.*109C>G , LRG_11t2:c.*109C>G	NP_478102.2:n.*109C>G
NM_058197.4:c.739C>G	NP_478104.2:n.739C>G
XM_005251343.1:c.312C>G	XP_005251400.1:p.Pro104=
XM_011517679.1:c.312C>G	XP_011515981.1:p.Pro104=
NM_001363763.1:c.312C>G	NP_001350692.1:p.Pro104=
NM_001363763.2:c.312C>G	NP_001350692.1:p.Pro104=
NM_000077.5:c.465C>G MANE Select	NP_000068.1:p.Pro155=
NM_001195132.2:c.*158C>G	NP_001182061.1:n.*158C>G
NM_058195.4:c.*109C>G MANE Plus Clinical	NP_478102.2:n.*109C>G
NM_058197.5:c.*388C>G	NP_478104.2:n.*388C>G