Canonical Allele Identifier: CA395658958

Gene: PHKG2

Linked Data

• dbSNP Id: rs368436227
• gnomAD v4: 16-30756476-A-C
• MyVariant Identifiers: chr16:g.30767797A>C (hg19) ; chr16:g.30756476A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30756476A>C , CM000678.2:g.30756476A>C	GRCh38
NC_000016.9:g.30767797A>C , CM000678.1:g.30767797A>C	GRCh37
NC_000016.8:g.30675298A>C	NCBI36
NG_016616.1:g.13178A>C
NG_016616.2:g.13178A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.757A>C MANE Select	ENSP00000455607.1:p.Ser253Arg
ENST00000328273.11:c.769A>C	ENSP00000329968.7:p.Ser257Arg
ENST00000424889.7:c.757A>C	ENSP00000388571.3:p.Ser253Arg
ENST00000563588.5:c.757A>C	ENSP00000455607.1:p.Ser253Arg
ENST00000563913.5:n.1090A>C
ENST00000564838.5:n.931-114A>C
ENST00000565897.5:c.757A>C	ENSP00000457359.1:p.Ser253Arg
ENST00000565924.5:c.757A>C	ENSP00000455091.1:p.Ser253Arg
NM_000294.2:c.757A>C	NP_000285.1:p.Ser253Arg
NM_001172432.1:c.757A>C	NP_001165903.1:p.Ser253Arg
NM_000294.3:c.757A>C MANE Select	NP_000285.1:p.Ser253Arg
NM_001172432.2:c.757A>C	NP_001165903.1:p.Ser253Arg