Canonical Allele Identifier: CA255296

Gene: PHKA2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18940017T>C , CM000685.2:g.18940017T>C	GRCh38
NC_000023.10:g.18958135T>C , CM000685.1:g.18958135T>C	GRCh37
NC_000023.9:g.18868056T>C	NCBI36
NG_016622.1:g.49346A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000292.3:c.896A>G MANE Select	NP_000283.1:p.Asp299Gly
ENST00000379942.5:c.896A>G MANE Select	ENSP00000369274.4:p.Asp299Gly
NM_000292.2:c.896A>G	NP_000283.1:p.Asp299Gly
ENST00000379942.4:c.896A>G	ENSP00000369274.4:p.Asp299Gly
XM_005274548.3:c.896A>G	XP_005274605.1:p.Asp299Gly
XM_005274548.5:c.896A>G	XP_005274605.1:p.Asp299Gly
XM_005274550.3:c.896A>G	XP_005274607.1:p.Asp299Gly
XM_005274550.5:c.896A>G	XP_005274607.1:p.Asp299Gly
XM_006724496.2:c.896A>G	XP_006724559.1:p.Asp299Gly
XM_006724496.4:c.896A>G	XP_006724559.1:p.Asp299Gly
XM_006724498.2:c.350A>G	XP_006724561.1:p.Asp117Gly
XM_006724498.4:c.350A>G	XP_006724561.1:p.Asp117Gly
XM_011545537.1:c.797A>G	XP_011543839.1:p.Asp266Gly
XM_011545537.3:c.797A>G	XP_011543839.1:p.Asp266Gly
XM_011545538.3:c.-173A>G	XP_011543840.1:n.-173A>G
XM_017029580.2:c.55A>G	XP_016885069.1:p.Met19Val
XR_001755697.2:n.1066A>G
XR_001755698.2:n.1066A>G
XR_002958777.1:n.1066A>G
XR_950461.1:n.1080A>G
XR_950461.3:n.1066A>G