Canonical Allele Identifier: CA10361682

Gene: PHKA2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18908912C>T , CM000685.2:g.18908912C>T	GRCh38
NC_000023.10:g.18927030C>T , CM000685.1:g.18927030C>T	GRCh37
NC_000023.9:g.18836951C>T	NCBI36
NG_016622.1:g.80451G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000292.3:c.2249G>A MANE Select	NP_000283.1:p.Trp750Ter
ENST00000379942.5:c.2249G>A MANE Select	ENSP00000369274.4:p.Trp750Ter
NM_000292.2:c.2249G>A	NP_000283.1:p.Trp750Ter
ENST00000379942.4:c.2249G>A	ENSP00000369274.4:p.Trp750Ter
XM_005274548.3:c.2249G>A	XP_005274605.1:p.Trp750Ter
XM_005274548.5:c.2249G>A	XP_005274605.1:p.Trp750Ter
XM_005274550.3:c.2249G>A	XP_005274607.1:p.Trp750Ter
XM_005274550.5:c.2249G>A	XP_005274607.1:p.Trp750Ter
XM_006724496.2:c.2249G>A	XP_006724559.1:p.Trp750Ter
XM_006724496.4:c.2249G>A	XP_006724559.1:p.Trp750Ter
XM_006724498.2:c.1703G>A	XP_006724561.1:p.Trp568Ter
XM_006724498.4:c.1703G>A	XP_006724561.1:p.Trp568Ter
XM_011545537.1:c.2150G>A	XP_011543839.1:p.Trp717Ter
XM_011545537.3:c.2150G>A	XP_011543839.1:p.Trp717Ter
XM_011545538.1:c.1232G>A	XP_011543840.1:p.Trp411Ter
XM_011545538.3:c.1232G>A	XP_011543840.1:p.Trp411Ter
XM_017029580.2:c.1343G>A	XP_016885069.1:p.Trp448Ter
XR_001755697.2:n.2419G>A
XR_001755698.2:n.2419G>A
XR_002958777.1:n.2419G>A
XR_950461.1:n.2433G>A
XR_950461.3:n.2419G>A