Canonical Allele Identifier: CA412379502

Gene: PHKA2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.18897335T>C , CM000685.2:g.18897335T>C	GRCh38
NC_000023.10:g.18915453T>C , CM000685.1:g.18915453T>C	GRCh37
NC_000023.9:g.18825374T>C	NCBI36
NG_016622.1:g.92028A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000292.3:c.3112-2A>G MANE Select	NP_000283.1:n.3112-2A>G
ENST00000379942.5:c.3112-2A>G MANE Select	ENSP00000369274.4:n.3112-2A>G
NM_000292.2:c.3112-2A>G	NP_000283.1:n.3112-2A>G
ENST00000379942.4:c.3112-2A>G	ENSP00000369274.4:n.3112-2A>G
ENST00000469485.5:n.835A>G
ENST00000469645.5:n.512-2A>G
ENST00000473739.5:n.204-2A>G
XM_005274548.3:c.3058-2A>G	XP_005274605.1:n.3058-2A>G
XM_005274548.5:c.3058-2A>G	XP_005274605.1:n.3058-2A>G
XM_005274550.3:c.3028-2A>G	XP_005274607.1:n.3028-2A>G
XM_005274550.5:c.3028-2A>G	XP_005274607.1:n.3028-2A>G
XM_006724496.2:c.3136-2A>G	XP_006724559.1:n.3136-2A>G
XM_006724496.4:c.3136-2A>G	XP_006724559.1:n.3136-2A>G
XM_006724498.2:c.2590-2A>G	XP_006724561.1:n.2590-2A>G
XM_006724498.4:c.2590-2A>G	XP_006724561.1:n.2590-2A>G
XM_011545537.1:c.3037-2A>G	XP_011543839.1:n.3037-2A>G
XM_011545537.3:c.3037-2A>G	XP_011543839.1:n.3037-2A>G
XM_011545538.1:c.2119-2A>G	XP_011543840.1:n.2119-2A>G
XM_011545538.3:c.2119-2A>G	XP_011543840.1:n.2119-2A>G
XM_017029580.2:c.2230-2A>G	XP_016885069.1:n.2230-2A>G
XR_001755697.2:n.3436-2A>G
XR_001755698.2:n.5238A>G
XR_002958777.1:n.3317-2A>G
XR_950461.1:n.4645-2A>G
XR_950461.3:n.4631-2A>G