Canonical Allele Identifier: CA10361552

Gene: PHKA2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18906499G>C , CM000685.2:g.18906499G>C	GRCh38
NC_000023.10:g.18924617G>C , CM000685.1:g.18924617G>C	GRCh37
NC_000023.9:g.18834538G>C	NCBI36
NG_016622.1:g.82864C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000292.3:c.2802C>G MANE Select	NP_000283.1:p.Cys934Trp
ENST00000379942.5:c.2802C>G MANE Select	ENSP00000369274.4:p.Cys934Trp
NM_000292.2:c.2802C>G	NP_000283.1:p.Cys934Trp
ENST00000379942.4:c.2802C>G	ENSP00000369274.4:p.Cys934Trp
ENST00000469645.5:n.193C>G
XM_005274548.3:c.2802C>G	XP_005274605.1:p.Cys934Trp
XM_005274548.5:c.2802C>G	XP_005274605.1:p.Cys934Trp
XM_005274550.3:c.2802C>G	XP_005274607.1:p.Cys934Trp
XM_005274550.5:c.2802C>G	XP_005274607.1:p.Cys934Trp
XM_006724496.2:c.2802C>G	XP_006724559.1:p.Cys934Trp
XM_006724496.4:c.2802C>G	XP_006724559.1:p.Cys934Trp
XM_006724498.2:c.2256C>G	XP_006724561.1:p.Cys752Trp
XM_006724498.4:c.2256C>G	XP_006724561.1:p.Cys752Trp
XM_011545537.1:c.2703C>G	XP_011543839.1:p.Cys901Trp
XM_011545537.3:c.2703C>G	XP_011543839.1:p.Cys901Trp
XM_011545538.1:c.1785C>G	XP_011543840.1:p.Cys595Trp
XM_011545538.3:c.1785C>G	XP_011543840.1:p.Cys595Trp
XM_017029580.2:c.1896C>G	XP_016885069.1:p.Cys632Trp
XR_001755697.2:n.2972C>G
XR_001755698.2:n.2972C>G
XR_002958777.1:n.2972C>G
XR_950461.1:n.2986C>G
XR_950461.3:n.2972C>G