Canonical Allele Identifier: CA8013433

Gene: PHKG2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30757082G>T , CM000678.2:g.30757082G>T	GRCh38
NC_000016.9:g.30768403G>T , CM000678.1:g.30768403G>T	GRCh37
NC_000016.8:g.30675904G>T	NCBI36
NG_016616.1:g.13784G>T
NG_016616.2:g.13784G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000294.3:c.1206G>T MANE Select	NP_000285.1:p.Val402=
ENST00000563588.6:c.1206G>T MANE Select	ENSP00000455607.1:p.Val402=
NM_000294.2:c.1206G>T	NP_000285.1:p.Val402=
NM_001172432.1:c.1083+123G>T	NP_001165903.1:n.1083+123G>T
NM_001172432.2:c.1083+123G>T	NP_001165903.1:n.1083+123G>T
ENST00000328273.11:c.1218G>T	ENSP00000329968.7:p.Val406=
ENST00000424889.7:c.1083+123G>T	ENSP00000388571.3:n.1083+123G>T
ENST00000563588.5:c.1206G>T	ENSP00000455607.1:p.Val402=
ENST00000563913.5:n.1539G>T
ENST00000564838.5:n.1335G>T