Allele Registry

Canonical Allele Identifier: CA13774983

Gene: CDK2 HGNC NCBI
PMEL HGNC NCBI

Linked Data - Expert Curation

COSMIC:

COSN8310406 (not active)

COSN17132693 (not active)

COSN17133514 (not active)

COSN17135297 (not active)

COSN17136158 (not active)

COSN17139866 (not active)

COSN17140719 (not active)

COSN17143756 (not active)

COSN17144728 (not active)

COSN17147400 (not active)

COSN17150117 (not active)

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr12:g.55970537A>G

GRCh37 chr12:g.56364321A>G

Linked Data - Sequence & Population

gnomAD v2:

12:56364321 A / G

gnomAD v3:

12:55970537 A / G

gnomAD v4:

chr12-55970537-A-G

Joint Max Group AF 0.32457267 (NFE)

Genomes Max Group AF 0.32164924 (NFE)

Exomes Max Group AF 0.32460654 (NFE)

Linked Data - NCBI & NCI

dbSNP:

2069408

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55970537A>G , CM000674.2:g.55970537A>G	GRCh38
NC_000012.11:g.56364321A>G , CM000674.1:g.56364321A>G	GRCh37
NC_000012.10:g.54650588A>G	NCBI36
NG_028086.1:g.1176T>C
NG_034014.1:g.8769A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266970.9:c.589-507A>G (CDK2) MANE Select	ENSP00000266970.4:n.589-507A>G
ENST00000266970.8:c.589-507A>G (CDK2)	ENSP00000266970.4:n.589-507A>G
ENST00000354056.4:c.487-507A>G (CDK2)	ENSP00000243067.4:n.487-507A>G
ENST00000440311.6:c.409-507A>G (CDK2)	ENSP00000393605.2:n.409-507A>G
ENST00000549233.2:c.85+416T>C (PMEL)	ENSP00000448871.1:n.85+416T>C
ENST00000553376.5:c.589-61A>G (CDK2)	ENSP00000452514.1:n.589-61A>G
ENST00000555408.5:c.*1201-507A>G (CDK2)	ENSP00000450983.1:n.*1201-507A>G
ENST00000556146.1:n.868-507A>G (CDK2)
ENST00000556276.5:n.610-507A>G (CDK2)
ENST00000556464.5:n.554-507A>G (CDK2)
ENST00000556656.5:n.555-507A>G (CDK2)
NM_001290230.1:c.409-507A>G (CDK2)	NP_001277159.1:n.409-507A>G
NM_001798.4:c.589-507A>G (CDK2)	NP_001789.2:n.589-507A>G
NM_052827.3:c.487-507A>G (CDK2)	NP_439892.2:n.487-507A>G
XM_011537732.1:c.589-61A>G (CDK2)	XP_011536034.1:n.589-61A>G
XM_011537732.2:c.589-61A>G (CDK2)	XP_011536034.1:n.589-61A>G
NM_001798.5:c.589-507A>G (CDK2) MANE Select	NP_001789.2:n.589-507A>G
NM_001290230.2:c.409-507A>G (CDK2)	NP_001277159.1:n.409-507A>G
NM_052827.4:c.487-507A>G (CDK2)	NP_439892.2:n.487-507A>G

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