Canonical Allele Identifier: CA494912512
Gene: PHKG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.30767751G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30756430G>T , CM000678.2:g.30756430G>T GRCh38
NC_000016.9:g.30767751G>T , CM000678.1:g.30767751G>T GRCh37
NC_000016.8:g.30675252G>T NCBI36
NG_016616.1:g.13132G>T
NG_016616.2:g.13132G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000563588.6:c.711G>T MANE Select ENSP00000455607.1:p.Arg237=
ENST00000328273.11:c.723G>T ENSP00000329968.7:p.Arg241=
ENST00000424889.7:c.711G>T ENSP00000388571.3:p.Arg237=
ENST00000563588.5:c.711G>T ENSP00000455607.1:p.Arg237=
ENST00000563913.5:n.1044G>T
ENST00000564838.5:n.931-160G>T
ENST00000565897.5:c.711G>T ENSP00000457359.1:p.Arg237=
ENST00000565924.5:c.711G>T ENSP00000455091.1:p.Arg237=
NM_000294.2:c.711G>T NP_000285.1:p.Arg237=
NM_001172432.1:c.711G>T NP_001165903.1:p.Arg237=
NM_000294.3:c.711G>T MANE Select NP_000285.1:p.Arg237=
NM_001172432.2:c.711G>T NP_001165903.1:p.Arg237=