Canonical Allele Identifier: CA395658340

Gene: PHKG2

Linked Data

• MyVariant Identifiers: chr16:g.30767541C>A (hg19) ; chr16:g.30756220C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30756220C>A , CM000678.2:g.30756220C>A	GRCh38
NC_000016.9:g.30767541C>A , CM000678.1:g.30767541C>A	GRCh37
NC_000016.8:g.30675042C>A	NCBI36
NG_016616.1:g.12922C>A
NG_016616.2:g.12922C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.595C>A MANE Select	ENSP00000455607.1:p.Leu199Ile
ENST00000328273.11:c.595C>A	ENSP00000329968.7:p.Leu199Ile
ENST00000424889.7:c.595C>A	ENSP00000388571.3:p.Leu199Ile
ENST00000563588.5:c.595C>A	ENSP00000455607.1:p.Leu199Ile
ENST00000563913.5:n.928C>A
ENST00000564838.5:n.931-370C>A
ENST00000565897.5:c.595C>A	ENSP00000457359.1:p.Leu199Ile
ENST00000565924.5:c.595C>A	ENSP00000455091.1:p.Leu199Ile
ENST00000569684.1:n.1007C>A
NM_000294.2:c.595C>A	NP_000285.1:p.Leu199Ile
NM_001172432.1:c.595C>A	NP_001165903.1:p.Leu199Ile
NM_000294.3:c.595C>A MANE Select	NP_000285.1:p.Leu199Ile
NM_001172432.2:c.595C>A	NP_001165903.1:p.Leu199Ile