Canonical Allele Identifier: CA6895239

Gene: ANKLE2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132729709C>G , CM000674.2:g.132729709C>G	GRCh38
NC_000012.11:g.133306295C>G , CM000674.1:g.133306295C>G	GRCh37
NC_000012.10:g.131816368C>G	NCBI36
NG_034022.1:g.37180G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015114.3:c.2453G>C MANE Select	NP_055929.1:p.Arg818Thr
ENST00000357997.10:c.2453G>C MANE Select	ENSP00000350686.5:p.Arg818Thr
NM_015114.2:c.2453G>C	NP_055929.1:p.Arg818Thr
ENST00000357997.9:c.2453G>C	ENSP00000350686.5:p.Arg818Thr
ENST00000538766.1:c.518G>C	ENSP00000445760.1:p.Arg173Thr
ENST00000539605.5:n.8952G>C
ENST00000542282.5:c.518G>C	ENSP00000437807.1:p.Arg173Thr
ENST00000542374.5:n.226-1546G>C
ENST00000542657.5:c.518G>C	ENSP00000438551.1:p.Arg173Thr
XM_005266159.2:c.2267G>C	XP_005266216.1:p.Arg756Thr
XM_005266159.3:c.2267G>C	XP_005266216.1:p.Arg756Thr
XM_005266160.1:c.2267G>C	XP_005266217.1:p.Arg756Thr
XM_005266160.2:c.2267G>C	XP_005266217.1:p.Arg756Thr
XM_006719735.1:c.1892-1546G>C	XP_006719798.1:n.1892-1546G>C
XM_011534789.1:c.1142G>C	XP_011533091.1:p.Arg381Thr
XM_024448899.1:c.1142G>C	XP_024304667.1:p.Arg381Thr
XR_001748638.1:n.2375G>C