Canonical Allele Identifier: CA494683703

Gene: PHKG2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30751181G>T , CM000678.2:g.30751181G>T	GRCh38
NC_000016.9:g.30762502G>T , CM000678.1:g.30762502G>T	GRCh37
NC_000016.8:g.30670003G>T	NCBI36
NG_016616.1:g.7883G>T
NG_016616.2:g.7883G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000294.3:c.171G>T MANE Select	NP_000285.1:p.Val57=
ENST00000563588.6:c.171G>T MANE Select	ENSP00000455607.1:p.Val57=
NM_000294.2:c.171G>T	NP_000285.1:p.Val57=
NM_001172432.1:c.171G>T	NP_001165903.1:p.Val57=
NM_001172432.2:c.171G>T	NP_001165903.1:p.Val57=
ENST00000328273.11:c.171G>T	ENSP00000329968.7:p.Val57=
ENST00000424889.7:c.171G>T	ENSP00000388571.3:p.Val57=
ENST00000563588.5:c.171G>T	ENSP00000455607.1:p.Val57=
ENST00000563607.1:c.171G>T	ENSP00000454641.1:p.Val57=
ENST00000563913.5:n.237G>T
ENST00000564838.5:n.278G>T
ENST00000565897.5:c.171G>T	ENSP00000457359.1:p.Val57=
ENST00000565924.5:c.171G>T	ENSP00000455091.1:p.Val57=
ENST00000569762.1:n.148G>T