Canonical Allele Identifier: CA719869762

Gene: PHKG2

Linked Data

• dbSNP Id: rs1299549235
• gnomAD v3: 16-30755971-C-G
• gnomAD v4: 16-30755971-C-G
• MyVariant Identifiers: chr16:g.30767292C>G (hg19) ; chr16:g.30755971C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30755971C>G , CM000678.2:g.30755971C>G	GRCh38
NC_000016.9:g.30767292C>G , CM000678.1:g.30767292C>G	GRCh37
NC_000016.8:g.30674793C>G	NCBI36
NG_016616.1:g.12673C>G
NG_016616.2:g.12673C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.557-211C>G MANE Select	ENSP00000455607.1:n.557-211C>G
ENST00000328273.11:c.557-211C>G	ENSP00000329968.7:n.557-211C>G
ENST00000424889.7:c.557-211C>G	ENSP00000388571.3:n.557-211C>G
ENST00000563588.5:c.557-211C>G	ENSP00000455607.1:n.557-211C>G
ENST00000563913.5:n.890-211C>G
ENST00000564838.5:n.931-619C>G
ENST00000565897.5:c.557-211C>G	ENSP00000457359.1:n.557-211C>G
ENST00000565924.5:c.557-211C>G	ENSP00000455091.1:n.557-211C>G
ENST00000569684.1:n.969-211C>G
NM_000294.2:c.557-211C>G	NP_000285.1:n.557-211C>G
NM_001172432.1:c.557-211C>G	NP_001165903.1:n.557-211C>G
NM_000294.3:c.557-211C>G MANE Select	NP_000285.1:n.557-211C>G
NM_001172432.2:c.557-211C>G	NP_001165903.1:n.557-211C>G