Canonical Allele Identifier: CA10361340
Community Standard Title: NM_000292.3(PHKA2):c.3336+17G>A
Gene: PHKA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.18895121C>T , CM000685.2:g.18895121C>T GRCh38
NC_000023.10:g.18913239C>T , CM000685.1:g.18913239C>T GRCh37
NC_000023.9:g.18823160C>T NCBI36
NG_016622.1:g.94242G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000292.3:c.3336+17G>A MANE Select NP_000283.1:n.3336+17G>A
ENST00000379942.5:c.3336+17G>A MANE Select ENSP00000369274.4:n.3336+17G>A
NM_000292.2:c.3336+17G>A NP_000283.1:n.3336+17G>A
ENST00000379942.4:c.3336+17G>A ENSP00000369274.4:n.3336+17G>A
ENST00000469485.5:n.1061+17G>A
ENST00000473597.1:n.105+17G>A
ENST00000473739.5:n.428+17G>A
ENST00000481718.1:n.1514G>A
XM_005274548.3:c.3282+17G>A XP_005274605.1:n.3282+17G>A
XM_005274548.5:c.3282+17G>A XP_005274605.1:n.3282+17G>A
XM_005274550.3:c.3252+17G>A XP_005274607.1:n.3252+17G>A
XM_005274550.5:c.3252+17G>A XP_005274607.1:n.3252+17G>A
XM_006724496.2:c.3360+17G>A XP_006724559.1:n.3360+17G>A
XM_006724496.4:c.3360+17G>A XP_006724559.1:n.3360+17G>A
XM_006724498.2:c.2814+17G>A XP_006724561.1:n.2814+17G>A
XM_006724498.4:c.2814+17G>A XP_006724561.1:n.2814+17G>A
XM_011545537.1:c.3261+17G>A XP_011543839.1:n.3261+17G>A
XM_011545537.3:c.3261+17G>A XP_011543839.1:n.3261+17G>A
XM_011545538.1:c.2343+17G>A XP_011543840.1:n.2343+17G>A
XM_011545538.3:c.2343+17G>A XP_011543840.1:n.2343+17G>A
XM_017029580.2:c.2454+17G>A XP_016885069.1:n.2454+17G>A
XR_001755698.2:n.5464+17G>A
XR_002958777.1:n.3541+17G>A