Canonical Allele Identifier: CA280540004

Gene: PHKG2

Linked Data

• dbSNP Id: rs538257505
• gnomAD v2: 16-30767346-G-A
• gnomAD v3: 16-30756025-G-A
• gnomAD v4: 16-30756025-G-A
• MyVariant Identifiers: chr16:g.30767346G>A (hg19) ; chr16:g.30756025G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30756025G>A , CM000678.2:g.30756025G>A	GRCh38
NC_000016.9:g.30767346G>A , CM000678.1:g.30767346G>A	GRCh37
NC_000016.8:g.30674847G>A	NCBI36
NG_016616.1:g.12727G>A
NG_016616.2:g.12727G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.557-157G>A MANE Select	ENSP00000455607.1:n.557-157G>A
ENST00000328273.11:c.557-157G>A	ENSP00000329968.7:n.557-157G>A
ENST00000424889.7:c.557-157G>A	ENSP00000388571.3:n.557-157G>A
ENST00000563588.5:c.557-157G>A	ENSP00000455607.1:n.557-157G>A
ENST00000563913.5:n.890-157G>A
ENST00000564838.5:n.931-565G>A
ENST00000565897.5:c.557-157G>A	ENSP00000457359.1:n.557-157G>A
ENST00000565924.5:c.557-157G>A	ENSP00000455091.1:n.557-157G>A
ENST00000569684.1:n.969-157G>A
NM_000294.2:c.557-157G>A	NP_000285.1:n.557-157G>A
NM_001172432.1:c.557-157G>A	NP_001165903.1:n.557-157G>A
NM_000294.3:c.557-157G>A MANE Select	NP_000285.1:n.557-157G>A
NM_001172432.2:c.557-157G>A	NP_001165903.1:n.557-157G>A