Canonical Allele Identifier: CA395658960

Gene: PHKG2

Linked Data

• MyVariant Identifiers: chr16:g.30767797A>T (hg19) ; chr16:g.30756476A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.757A>T MANE Select	ENSP00000455607.1:p.Ser253Cys
ENST00000328273.11:c.769A>T	ENSP00000329968.7:p.Ser257Cys
ENST00000424889.7:c.757A>T	ENSP00000388571.3:p.Ser253Cys
ENST00000563588.5:c.757A>T	ENSP00000455607.1:p.Ser253Cys
ENST00000563913.5:n.1090A>T
ENST00000564838.5:n.931-114A>T
ENST00000565897.5:c.757A>T	ENSP00000457359.1:p.Ser253Cys
ENST00000565924.5:c.757A>T	ENSP00000455091.1:p.Ser253Cys
NM_000294.2:c.757A>T	NP_000285.1:p.Ser253Cys
NM_001172432.1:c.757A>T	NP_001165903.1:p.Ser253Cys
NM_000294.3:c.757A>T MANE Select	NP_000285.1:p.Ser253Cys
NM_001172432.2:c.757A>T	NP_001165903.1:p.Ser253Cys