Canonical Allele Identifier: CA6895102
Community Standard Title: NM_015114.3(ANKLE2):c.2804T>G (p.Leu935Arg)
Gene: ANKLE2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132727255A>C , CM000674.2:g.132727255A>C GRCh38
NC_000012.11:g.133303841A>C , CM000674.1:g.133303841A>C GRCh37
NC_000012.10:g.131813914A>C NCBI36
NG_034022.1:g.39634T>G

Transcript Alleles

HGVS Amino-acid Change
NM_015114.3:c.2804T>G MANE Select NP_055929.1:p.Leu935Arg
ENST00000357997.10:c.2804T>G MANE Select ENSP00000350686.5:p.Leu935Arg
NM_015114.2:c.2804T>G NP_055929.1:p.Leu935Arg
ENST00000357997.9:c.2804T>G ENSP00000350686.5:p.Leu935Arg
ENST00000539605.5:n.9303T>G
ENST00000542282.5:c.869T>G ENSP00000437807.1:p.Leu290Arg
ENST00000542657.5:c.869T>G ENSP00000438551.1:p.Leu290Arg
XM_005266159.2:c.2618T>G XP_005266216.1:p.Leu873Arg
XM_005266159.3:c.2618T>G XP_005266216.1:p.Leu873Arg
XM_005266160.1:c.2618T>G XP_005266217.1:p.Leu873Arg
XM_005266160.2:c.2618T>G XP_005266217.1:p.Leu873Arg
XM_006719735.1:c.*169T>G XP_006719798.1:n.*169T>G
XM_011534789.1:c.1493T>G XP_011533091.1:p.Leu498Arg
XM_024448899.1:c.1493T>G XP_024304667.1:p.Leu498Arg
XR_001748638.1:n.2726T>G