Canonical Allele Identifier: CA13774983
Gene: CDK2 HGNC NCBI
PMEL HGNC NCBI
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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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