Canonical Allele Identifier: CA395658345

Gene: PHKG2

Linked Data

• MyVariant Identifiers: chr16:g.30767542T>A (hg19) ; chr16:g.30756221T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30756221T>A , CM000678.2:g.30756221T>A	GRCh38
NC_000016.9:g.30767542T>A , CM000678.1:g.30767542T>A	GRCh37
NC_000016.8:g.30675043T>A	NCBI36
NG_016616.1:g.12923T>A
NG_016616.2:g.12923T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.596T>A MANE Select	ENSP00000455607.1:p.Leu199His
ENST00000328273.11:c.596T>A	ENSP00000329968.7:p.Leu199His
ENST00000424889.7:c.596T>A	ENSP00000388571.3:p.Leu199His
ENST00000563588.5:c.596T>A	ENSP00000455607.1:p.Leu199His
ENST00000563913.5:n.929T>A
ENST00000564838.5:n.931-369T>A
ENST00000565897.5:c.596T>A	ENSP00000457359.1:p.Leu199His
ENST00000565924.5:c.596T>A	ENSP00000455091.1:p.Leu199His
ENST00000569684.1:n.1008T>A
NM_000294.2:c.596T>A	NP_000285.1:p.Leu199His
NM_001172432.1:c.596T>A	NP_001165903.1:p.Leu199His
NM_000294.3:c.596T>A MANE Select	NP_000285.1:p.Leu199His
NM_001172432.2:c.596T>A	NP_001165903.1:p.Leu199His