Canonical Allele Identifier: CA237597355

Gene: CDK2 PMEL

Linked Data

• dbSNP Id: rs78839552
• gnomAD v2: 12-56365605-G-A
• gnomAD v3: 12-55971821-G-A
• gnomAD v4: 12-55971821-G-A
• MyVariant Identifiers: chr12:g.56365605G>A (hg19) ; chr12:g.55971821G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55971821G>A , CM000674.2:g.55971821G>A	GRCh38
NC_000012.11:g.56365605G>A , CM000674.1:g.56365605G>A	GRCh37
NC_000012.10:g.54651872G>A	NCBI36
NG_034014.1:g.10053G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000266970.9:c.*196G>A (CDK2) MANE Select	ENSP00000266970.4:n.*196G>A
ENST00000266970.8:c.*196G>A (CDK2)	ENSP00000266970.4:n.*196G>A
ENST00000354056.4:c.*196G>A (CDK2)	ENSP00000243067.4:n.*196G>A
ENST00000549233.2:c.-95-54C>T (PMEL)	ENSP00000448871.1:n.-95-54C>T
ENST00000553376.5:c.*196G>A (CDK2)	ENSP00000452514.1:n.*196G>A
ENST00000554545.1:n.429G>A (CDK2)
ENST00000555408.5:c.*1705G>A (CDK2)	ENSP00000450983.1:n.*1705G>A
NM_001290230.1:c.*196G>A (CDK2)	NP_001277159.1:n.*196G>A
NM_001798.4:c.*196G>A (CDK2)	NP_001789.2:n.*196G>A
NM_052827.3:c.*196G>A (CDK2)	NP_439892.2:n.*196G>A
XM_011537732.1:c.*196G>A (CDK2)	XP_011536034.1:n.*196G>A
XM_011537732.2:c.*196G>A (CDK2)	XP_011536034.1:n.*196G>A
NM_001798.5:c.*196G>A (CDK2) MANE Select	NP_001789.2:n.*196G>A
NM_001290230.2:c.*196G>A (CDK2)	NP_001277159.1:n.*196G>A
NM_052827.4:c.*196G>A (CDK2)	NP_439892.2:n.*196G>A