Canonical Allele Identifier: CA395659121

Gene: PHKG2

Linked Data

• MyVariant Identifiers: chr16:g.30767840T>C (hg19) ; chr16:g.30756519T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30756519T>C , CM000678.2:g.30756519T>C	GRCh38
NC_000016.9:g.30767840T>C , CM000678.1:g.30767840T>C	GRCh37
NC_000016.8:g.30675341T>C	NCBI36
NG_016616.1:g.13221T>C
NG_016616.2:g.13221T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563588.6:c.800T>C MANE Select	ENSP00000455607.1:p.Leu267Pro
ENST00000328273.11:c.812T>C	ENSP00000329968.7:p.Leu271Pro
ENST00000424889.7:c.800T>C	ENSP00000388571.3:p.Leu267Pro
ENST00000563588.5:c.800T>C	ENSP00000455607.1:p.Leu267Pro
ENST00000563913.5:n.1133T>C
ENST00000564838.5:n.931-71T>C
NM_000294.2:c.800T>C	NP_000285.1:p.Leu267Pro
NM_001172432.1:c.800T>C	NP_001165903.1:p.Leu267Pro
NM_000294.3:c.800T>C MANE Select	NP_000285.1:p.Leu267Pro
NM_001172432.2:c.800T>C	NP_001165903.1:p.Leu267Pro