Canonical Allele Identifier: CA2632770344

Gene: PHKG2

Linked Data

• gnomAD v4: 16-30753686-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30753686T>A , CM000678.2:g.30753686T>A	GRCh38
NC_000016.9:g.30765007T>A , CM000678.1:g.30765007T>A	GRCh37
NC_000016.8:g.30672508T>A	NCBI36
NG_016616.1:g.10388T>A
NG_016616.2:g.10388T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.556+129T>A MANE Select	ENSP00000455607.1:n.556+129T>A
ENST00000328273.11:c.556+129T>A	ENSP00000329968.7:n.556+129T>A
ENST00000424889.7:c.556+129T>A	ENSP00000388571.3:n.556+129T>A
ENST00000561712.1:c.230+129T>A
ENST00000563588.5:c.556+129T>A	ENSP00000455607.1:n.556+129T>A
ENST00000563913.5:n.889+129T>A
ENST00000564838.5:n.930+129T>A
ENST00000565897.5:c.556+129T>A	ENSP00000457359.1:n.556+129T>A
ENST00000565924.5:c.556+129T>A	ENSP00000455091.1:n.556+129T>A
ENST00000569684.1:n.968+129T>A
NM_000294.2:c.556+129T>A	NP_000285.1:n.556+129T>A
NM_001172432.1:c.556+129T>A	NP_001165903.1:n.556+129T>A
NM_000294.3:c.556+129T>A MANE Select	NP_000285.1:n.556+129T>A
NM_001172432.2:c.556+129T>A	NP_001165903.1:n.556+129T>A