Canonical Allele Identifier: CA2738507450

Gene: PHKA2

Linked Data

• dbSNP Id: rs2147986508

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18950897_18950912del , CM000685.2:g.18950897_18950912del	GRCh38
NC_000023.10:g.18969015_18969030del , CM000685.1:g.18969015_18969030del	GRCh37
NC_000023.9:g.18878936_18878951del	NCBI36
NG_016622.1:g.38452_38467del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379942.5:c.454+193_454+208del MANE Select	ENSP00000369274.4:n.454+193_454+208del
ENST00000379942.4:c.454+193_454+208del	ENSP00000369274.4:n.454+193_454+208del
NM_000292.2:c.454+193_454+208del	NP_000283.1:n.454+193_454+208del
XM_005274548.3:c.454+193_454+208del	XP_005274605.1:n.454+193_454+208del
XM_005274550.3:c.454+193_454+208del	XP_005274607.1:n.454+193_454+208del
XM_006724496.2:c.454+193_454+208del	XP_006724559.1:n.454+193_454+208del
XM_006724498.2:c.-93+1583_-93+1598del	XP_006724561.1:n.-93+1583_-93+1598del
XM_011545537.1:c.454+193_454+208del	XP_011543839.1:n.454+193_454+208del
XR_950461.1:n.638+193_638+208del
XM_005274548.5:c.454+193_454+208del	XP_005274605.1:n.454+193_454+208del
XM_005274550.5:c.454+193_454+208del	XP_005274607.1:n.454+193_454+208del
XM_006724496.4:c.454+193_454+208del	XP_006724559.1:n.454+193_454+208del
XM_006724498.4:c.-93+1583_-93+1598del	XP_006724561.1:n.-93+1583_-93+1598del
XM_011545537.3:c.454+193_454+208del	XP_011543839.1:n.454+193_454+208del
XM_017029580.2:c.-388+193_-388+208del	XP_016885069.1:n.-388+193_-388+208del
XR_001755697.2:n.624+193_624+208del
XR_001755698.2:n.624+193_624+208del
XR_002958777.1:n.624+193_624+208del
XR_950461.3:n.624+193_624+208del
NM_000292.3:c.454+193_454+208del MANE Select	NP_000283.1:n.454+193_454+208del