Canonical Allele Identifier: CA8013304
Gene: PHKG2 HGNC NCBI

Linked Data

dbSNP Id: rs376356248
ExAC: 16:30767860 G / A
gnomAD v2: 16-30767860-G-A
gnomAD v3: 16-30756539-G-A
gnomAD v4: 16-30756539-G-A
MyVariant Identifiers: chr16:g.30767860G>A (hg19) chr16:g.30767860_30767861delinsAA (hg19) chr16:g.30756539G>A (hg38) chr16:g.30756539_30756540delinsAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30756539G>A , CM000678.2:g.30756539G>A GRCh38
NC_000016.9:g.30767860G>A , CM000678.1:g.30767860G>A GRCh37
NC_000016.8:g.30675361G>A NCBI36
NG_016616.1:g.13241G>A
NG_016616.2:g.13241G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000563588.6:c.801+19G>A MANE Select ENSP00000455607.1:n.801+19G>A
ENST00000328273.11:c.813+19G>A ENSP00000329968.7:n.813+19G>A
ENST00000424889.7:c.801+19G>A ENSP00000388571.3:n.801+19G>A
ENST00000563588.5:c.801+19G>A ENSP00000455607.1:n.801+19G>A
ENST00000563913.5:n.1134+19G>A
ENST00000564838.5:n.931-51G>A
NM_000294.2:c.801+19G>A NP_000285.1:n.801+19G>A
NM_001172432.1:c.801+19G>A NP_001165903.1:n.801+19G>A
NM_000294.3:c.801+19G>A MANE Select NP_000285.1:n.801+19G>A
NM_001172432.2:c.801+19G>A NP_001165903.1:n.801+19G>A
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