Canonical Allele Identifier: CA6895289
Community Standard Title: NM_015114.3(ANKLE2):c.2236C>T (p.Arg746Cys)
Gene: ANKLE2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132729926G>A , CM000674.2:g.132729926G>A GRCh38
NC_000012.11:g.133306512G>A , CM000674.1:g.133306512G>A GRCh37
NC_000012.10:g.131816585G>A NCBI36
NG_034022.1:g.36963C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015114.3:c.2236C>T MANE Select NP_055929.1:p.Arg746Cys
ENST00000357997.10:c.2236C>T MANE Select ENSP00000350686.5:p.Arg746Cys
NM_015114.2:c.2236C>T NP_055929.1:p.Arg746Cys
ENST00000357997.9:c.2236C>T ENSP00000350686.5:p.Arg746Cys
ENST00000505031.6:n.2658C>T
ENST00000538766.1:c.301C>T ENSP00000445760.1:p.Arg101Cys
ENST00000539605.5:n.8735C>T
ENST00000542282.5:c.301C>T ENSP00000437807.1:p.Arg101Cys
ENST00000542374.5:n.226-1763C>T
ENST00000542657.5:c.301C>T ENSP00000438551.1:p.Arg101Cys
XM_005266159.2:c.2050C>T XP_005266216.1:p.Arg684Cys
XM_005266159.3:c.2050C>T XP_005266216.1:p.Arg684Cys
XM_005266160.1:c.2050C>T XP_005266217.1:p.Arg684Cys
XM_005266160.2:c.2050C>T XP_005266217.1:p.Arg684Cys
XM_006719735.1:c.1892-1763C>T XP_006719798.1:n.1892-1763C>T
XM_011534789.1:c.925C>T XP_011533091.1:p.Arg309Cys
XM_024448899.1:c.925C>T XP_024304667.1:p.Arg309Cys
XR_001748638.1:n.2158C>T