Canonical Allele Identifier: CA395655817

Gene: PHKG2

Linked Data

• gnomAD v4: 16-30753271-G-C
• MyVariant Identifiers: chr16:g.30764592G>C (hg19) ; chr16:g.30753271G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30753271G>C , CM000678.2:g.30753271G>C	GRCh38
NC_000016.9:g.30764592G>C , CM000678.1:g.30764592G>C	GRCh37
NC_000016.8:g.30672093G>C	NCBI36
NG_016616.1:g.9973G>C
NG_016616.2:g.9973G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000563588.6:c.366G>C MANE Select	ENSP00000455607.1:p.Lys122Asn
ENST00000328273.11:c.366G>C	ENSP00000329968.7:p.Lys122Asn
ENST00000424889.7:c.366G>C	ENSP00000388571.3:p.Lys122Asn
ENST00000561712.1:c.40G>C
ENST00000563588.5:c.366G>C	ENSP00000455607.1:p.Lys122Asn
ENST00000563607.1:c.*38G>C	ENSP00000454641.1:n.*38G>C
ENST00000563913.5:n.699G>C
ENST00000564838.5:n.740G>C
ENST00000565897.5:c.366G>C	ENSP00000457359.1:p.Lys122Asn
ENST00000565924.5:c.366G>C	ENSP00000455091.1:p.Lys122Asn
ENST00000569684.1:n.778G>C
NM_000294.2:c.366G>C	NP_000285.1:p.Lys122Asn
NM_001172432.1:c.366G>C	NP_001165903.1:p.Lys122Asn
NM_000294.3:c.366G>C MANE Select	NP_000285.1:p.Lys122Asn
NM_001172432.2:c.366G>C	NP_001165903.1:p.Lys122Asn