Canonical Allele Identifier: CA2547950783

Gene: PHKG2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30756554C>A , CM000678.2:g.30756554C>A	GRCh38
NC_000016.9:g.30767875C>A , CM000678.1:g.30767875C>A	GRCh37
NC_000016.8:g.30675376C>A	NCBI36
NG_016616.1:g.13256C>A
NG_016616.2:g.13256C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.801+34C>A MANE Select	ENSP00000455607.1:n.801+34C>A
ENST00000328273.11:c.813+34C>A	ENSP00000329968.7:n.813+34C>A
ENST00000424889.7:c.801+34C>A	ENSP00000388571.3:n.801+34C>A
ENST00000563588.5:c.801+34C>A	ENSP00000455607.1:n.801+34C>A
ENST00000563913.5:n.1134+34C>A
ENST00000564838.5:n.931-36C>A
NM_000294.2:c.801+34C>A	NP_000285.1:n.801+34C>A
NM_001172432.1:c.801+34C>A	NP_001165903.1:n.801+34C>A
NM_000294.3:c.801+34C>A MANE Select	NP_000285.1:n.801+34C>A
NM_001172432.2:c.801+34C>A	NP_001165903.1:n.801+34C>A