Canonical Allele Identifier: CA976322329

Gene: PHKG2

Linked Data

• dbSNP Id: rs1299549235
• gnomAD v3: 16-30755971-C-T
• gnomAD v4: 16-30755971-C-T

Genomic Alleles

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

Transcript Alleles

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