Canonical Allele Identifier: CA237597365

Gene: CDK2 PMEL

Linked Data

• dbSNP Id: rs891061858
• gnomAD v2: 12-56365633-C-T
• gnomAD v3: 12-55971849-C-T
• gnomAD v4: 12-55971849-C-T
• MyVariant Identifiers: chr12:g.56365633C>T (hg19) ; chr12:g.55971849C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55971849C>T , CM000674.2:g.55971849C>T	GRCh38
NC_000012.11:g.56365633C>T , CM000674.1:g.56365633C>T	GRCh37
NC_000012.10:g.54651900C>T	NCBI36
NG_034014.1:g.10081C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266970.9:c.*224C>T (CDK2) MANE Select	ENSP00000266970.4:n.*224C>T
ENST00000266970.8:c.*224C>T (CDK2)	ENSP00000266970.4:n.*224C>T
ENST00000354056.4:c.*224C>T (CDK2)	ENSP00000243067.4:n.*224C>T
ENST00000549233.2:c.-95-82G>A (PMEL)	ENSP00000448871.1:n.-95-82G>A
ENST00000553376.5:c.*224C>T (CDK2)	ENSP00000452514.1:n.*224C>T
ENST00000555408.5:c.*1733C>T (CDK2)	ENSP00000450983.1:n.*1733C>T
NM_001290230.1:c.*224C>T (CDK2)	NP_001277159.1:n.*224C>T
NM_001798.4:c.*224C>T (CDK2)	NP_001789.2:n.*224C>T
NM_052827.3:c.*224C>T (CDK2)	NP_439892.2:n.*224C>T
XM_011537732.1:c.*224C>T (CDK2)	XP_011536034.1:n.*224C>T
XM_011537732.2:c.*224C>T (CDK2)	XP_011536034.1:n.*224C>T
NM_001798.5:c.*224C>T (CDK2) MANE Select	NP_001789.2:n.*224C>T
NM_001290230.2:c.*224C>T (CDK2)	NP_001277159.1:n.*224C>T
NM_052827.4:c.*224C>T (CDK2)	NP_439892.2:n.*224C>T