Canonical Allele Identifier: CA237597385

Gene: CDK2 PMEL

Linked Data

• dbSNP Id: rs998995647
• gnomAD v4: 12-55971926-T-A
• MyVariant Identifiers: chr12:g.56365710T>A (hg19) ; chr12:g.55971926T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55971926T>A , CM000674.2:g.55971926T>A	GRCh38
NC_000012.11:g.56365710T>A , CM000674.1:g.56365710T>A	GRCh37
NC_000012.10:g.54651977T>A	NCBI36
NG_034014.1:g.10158T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266970.9:c.*301T>A (CDK2) MANE Select	ENSP00000266970.4:n.*301T>A
ENST00000266970.8:c.*301T>A (CDK2)	ENSP00000266970.4:n.*301T>A
ENST00000549233.2:c.-95-159A>T (PMEL)	ENSP00000448871.1:n.-95-159A>T
ENST00000553376.5:c.*301T>A (CDK2)	ENSP00000452514.1:n.*301T>A
ENST00000555408.5:c.*1810T>A (CDK2)	ENSP00000450983.1:n.*1810T>A
NM_001290230.1:c.*301T>A (CDK2)	NP_001277159.1:n.*301T>A
NM_001798.4:c.*301T>A (CDK2)	NP_001789.2:n.*301T>A
NM_052827.3:c.*301T>A (CDK2)	NP_439892.2:n.*301T>A
XM_011537732.1:c.*301T>A (CDK2)	XP_011536034.1:n.*301T>A
XM_011537732.2:c.*301T>A (CDK2)	XP_011536034.1:n.*301T>A
NM_001798.5:c.*301T>A (CDK2) MANE Select	NP_001789.2:n.*301T>A
NM_001290230.2:c.*301T>A (CDK2)	NP_001277159.1:n.*301T>A
NM_052827.4:c.*301T>A (CDK2)	NP_439892.2:n.*301T>A