Canonical Allele Identifier: CA2619241283

Gene: CDK2 PMEL

Linked Data

• gnomAD v4: 12-55971943-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55971943A>C , CM000674.2:g.55971943A>C	GRCh38
NC_000012.11:g.56365727A>C , CM000674.1:g.56365727A>C	GRCh37
NC_000012.10:g.54651994A>C	NCBI36
NG_034014.1:g.10175A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266970.9:c.*318A>C (CDK2) MANE Select	ENSP00000266970.4:n.*318A>C
ENST00000266970.8:c.*318A>C (CDK2)	ENSP00000266970.4:n.*318A>C
ENST00000549233.2:c.-95-176T>G (PMEL)	ENSP00000448871.1:n.-95-176T>G
ENST00000553376.5:c.*318A>C (CDK2)	ENSP00000452514.1:n.*318A>C
ENST00000555408.5:c.*1827A>C (CDK2)	ENSP00000450983.1:n.*1827A>C
NM_001290230.1:c.*318A>C (CDK2)	NP_001277159.1:n.*318A>C
NM_001798.4:c.*318A>C (CDK2)	NP_001789.2:n.*318A>C
NM_052827.3:c.*318A>C (CDK2)	NP_439892.2:n.*318A>C
XM_011537732.1:c.*318A>C (CDK2)	XP_011536034.1:n.*318A>C
XM_011537732.2:c.*318A>C (CDK2)	XP_011536034.1:n.*318A>C
NM_001798.5:c.*318A>C (CDK2) MANE Select	NP_001789.2:n.*318A>C
NM_001290230.2:c.*318A>C (CDK2)	NP_001277159.1:n.*318A>C
NM_052827.4:c.*318A>C (CDK2)	NP_439892.2:n.*318A>C