Canonical Allele Identifier: CA2499223502

Gene: PHKG2

Linked Data

• ClinVar Variation Id: 1072144
• ClinVar RCV Id: RCV001384793
• dbSNP Id: rs2151310104

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30756181_30756182delinsAG , CM000678.2:g.30756181_30756182delinsAG	GRCh38
NC_000016.9:g.30767502_30767503delinsAG , CM000678.1:g.30767502_30767503delinsAG	GRCh37
NC_000016.8:g.30675003_30675004delinsAG	NCBI36
NG_016616.1:g.12883_12884delinsAG
NG_016616.2:g.12883_12884delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.557-1_557delinsAG
ENST00000328273.11:c.557-1_557delinsAG
ENST00000424889.7:c.557-1_557delinsAG
ENST00000563588.5:c.557-1_557delinsAG
ENST00000563913.5:n.890-1_890delinsAG
ENST00000564838.5:n.931-409_931-408delinsAG
ENST00000565897.5:c.557-1_557delinsAG
ENST00000565924.5:c.557-1_557delinsAG
ENST00000569684.1:n.969-1_969delinsAG
NM_000294.2:c.557-1_557delinsAG
NM_001172432.1:c.557-1_557delinsAG
NM_000294.3:c.557-1_557delinsAG
NM_001172432.2:c.557-1_557delinsAG