Canonical Allele Identifier: CA8013289

Gene: PHKG2

Linked Data

• ClinVar Variation Id: 2749404
• ClinVar RCV Id: RCV003514937
• dbSNP Id: rs746067638
• ExAC: 16:30767805 C / T
• gnomAD v2: 16-30767805-C-T
• gnomAD v3: 16-30756484-C-T
• gnomAD v4: 16-30756484-C-T
• COSMIC: COSM6230079
• MyVariant Identifiers: chr16:g.30767805C>T (hg19) ; chr16:g.30756484C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30756484C>T , CM000678.2:g.30756484C>T	GRCh38
NC_000016.9:g.30767805C>T , CM000678.1:g.30767805C>T	GRCh37
NC_000016.8:g.30675306C>T	NCBI36
NG_016616.1:g.13186C>T
NG_016616.2:g.13186C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000563588.6:c.765C>T MANE Select	ENSP00000455607.1:p.Pro255=
ENST00000328273.11:c.777C>T	ENSP00000329968.7:p.Pro259=
ENST00000424889.7:c.765C>T	ENSP00000388571.3:p.Pro255=
ENST00000563588.5:c.765C>T	ENSP00000455607.1:p.Pro255=
ENST00000563913.5:n.1098C>T
ENST00000564838.5:n.931-106C>T
ENST00000565897.5:c.765C>T	ENSP00000457359.1:p.Pro255=
NM_000294.2:c.765C>T	NP_000285.1:p.Pro255=
NM_001172432.1:c.765C>T	NP_001165903.1:p.Pro255=
NM_000294.3:c.765C>T MANE Select	NP_000285.1:p.Pro255=
NM_001172432.2:c.765C>T	NP_001165903.1:p.Pro255=