Canonical Allele Identifier: CA690161359

Gene: CDK2 PMEL

Linked Data

• dbSNP Id: rs1185640021
• MyVariant Identifiers: chr12:g.56365729C>A (hg19) ; chr12:g.55971945C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55971945C>A , CM000674.2:g.55971945C>A	GRCh38
NC_000012.11:g.56365729C>A , CM000674.1:g.56365729C>A	GRCh37
NC_000012.10:g.54651996C>A	NCBI36
NG_034014.1:g.10177C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266970.9:c.*320C>A (CDK2) MANE Select	ENSP00000266970.4:n.*320C>A
ENST00000266970.8:c.*320C>A (CDK2)	ENSP00000266970.4:n.*320C>A
ENST00000549233.2:c.-95-178G>T (PMEL)	ENSP00000448871.1:n.-95-178G>T
ENST00000553376.5:c.*320C>A (CDK2)	ENSP00000452514.1:n.*320C>A
ENST00000555408.5:c.*1829C>A (CDK2)	ENSP00000450983.1:n.*1829C>A
NM_001290230.1:c.*320C>A (CDK2)	NP_001277159.1:n.*320C>A
NM_001798.4:c.*320C>A (CDK2)	NP_001789.2:n.*320C>A
NM_052827.3:c.*320C>A (CDK2)	NP_439892.2:n.*320C>A
XM_011537732.1:c.*320C>A (CDK2)	XP_011536034.1:n.*320C>A
XM_011537732.2:c.*320C>A (CDK2)	XP_011536034.1:n.*320C>A
NM_001798.5:c.*320C>A (CDK2) MANE Select	NP_001789.2:n.*320C>A
NM_001290230.2:c.*320C>A (CDK2)	NP_001277159.1:n.*320C>A
NM_052827.4:c.*320C>A (CDK2)	NP_439892.2:n.*320C>A