Canonical Allele Identifier: CA395658758

Gene: PHKG2

Linked Data

• MyVariant Identifiers: chr16:g.30767742G>T (hg19) ; chr16:g.30756421G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30756421G>T , CM000678.2:g.30756421G>T	GRCh38
NC_000016.9:g.30767742G>T , CM000678.1:g.30767742G>T	GRCh37
NC_000016.8:g.30675243G>T	NCBI36
NG_016616.1:g.13123G>T
NG_016616.2:g.13123G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.702G>T MANE Select	ENSP00000455607.1:p.Trp234Cys
ENST00000328273.11:c.714G>T	ENSP00000329968.7:p.Trp238Cys
ENST00000424889.7:c.702G>T	ENSP00000388571.3:p.Trp234Cys
ENST00000563588.5:c.702G>T	ENSP00000455607.1:p.Trp234Cys
ENST00000563913.5:n.1035G>T
ENST00000564838.5:n.931-169G>T
ENST00000565897.5:c.702G>T	ENSP00000457359.1:p.Trp234Cys
ENST00000565924.5:c.702G>T	ENSP00000455091.1:p.Trp234Cys
ENST00000569684.1:n.1126G>T
NM_000294.2:c.702G>T	NP_000285.1:p.Trp234Cys
NM_001172432.1:c.702G>T	NP_001165903.1:p.Trp234Cys
NM_000294.3:c.702G>T MANE Select	NP_000285.1:p.Trp234Cys
NM_001172432.2:c.702G>T	NP_001165903.1:p.Trp234Cys