Canonical Allele Identifier: CA395658693

Gene: PHKG2

Linked Data

• dbSNP Id: rs1486041167
• gnomAD v4: 16-30756401-G-T
• MyVariant Identifiers: chr16:g.30767722G>T (hg19) ; chr16:g.30756401G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30756401G>T , CM000678.2:g.30756401G>T	GRCh38
NC_000016.9:g.30767722G>T , CM000678.1:g.30767722G>T	GRCh37
NC_000016.8:g.30675223G>T	NCBI36
NG_016616.1:g.13103G>T
NG_016616.2:g.13103G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000563588.6:c.682G>T MANE Select	ENSP00000455607.1:p.Ala228Ser
ENST00000328273.11:c.694G>T	ENSP00000329968.7:p.Ala232Ser
ENST00000424889.7:c.682G>T	ENSP00000388571.3:p.Ala228Ser
ENST00000563588.5:c.682G>T	ENSP00000455607.1:p.Ala228Ser
ENST00000563913.5:n.1015G>T
ENST00000564838.5:n.931-189G>T
ENST00000565897.5:c.682G>T	ENSP00000457359.1:p.Ala228Ser
ENST00000565924.5:c.682G>T	ENSP00000455091.1:p.Ala228Ser
ENST00000569684.1:n.1106G>T
NM_000294.2:c.682G>T	NP_000285.1:p.Ala228Ser
NM_001172432.1:c.682G>T	NP_001165903.1:p.Ala228Ser
NM_000294.3:c.682G>T MANE Select	NP_000285.1:p.Ala228Ser
NM_001172432.2:c.682G>T	NP_001165903.1:p.Ala228Ser