Canonical Allele Identifier: CA6895340
Community Standard Title: NM_015114.3(ANKLE2):c.2038G>A (p.Glu680Lys)
Gene: ANKLE2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132730124C>T , CM000674.2:g.132730124C>T GRCh38
NC_000012.11:g.133306710C>T , CM000674.1:g.133306710C>T GRCh37
NC_000012.10:g.131816783C>T NCBI36
NG_034022.1:g.36765G>A

Transcript Alleles

HGVS Amino-acid Change
NM_015114.3:c.2038G>A MANE Select NP_055929.1:p.Glu680Lys
ENST00000357997.10:c.2038G>A MANE Select ENSP00000350686.5:p.Glu680Lys
NM_015114.2:c.2038G>A NP_055929.1:p.Glu680Lys
ENST00000357997.9:c.2038G>A ENSP00000350686.5:p.Glu680Lys
ENST00000505031.6:n.2460G>A
ENST00000538766.1:c.103G>A ENSP00000445760.1:p.Glu35Lys
ENST00000539605.5:n.8537G>A
ENST00000542282.5:c.103G>A ENSP00000437807.1:p.Glu35Lys
ENST00000542374.5:n.226-1961G>A
ENST00000542657.5:c.103G>A ENSP00000438551.1:p.Glu35Lys
XM_005266159.2:c.1852G>A XP_005266216.1:p.Glu618Lys
XM_005266159.3:c.1852G>A XP_005266216.1:p.Glu618Lys
XM_005266160.1:c.1852G>A XP_005266217.1:p.Glu618Lys
XM_005266160.2:c.1852G>A XP_005266217.1:p.Glu618Lys
XM_006719735.1:c.1892-1961G>A XP_006719798.1:n.1892-1961G>A
XM_011534789.1:c.727G>A XP_011533091.1:p.Glu243Lys
XM_024448899.1:c.727G>A XP_024304667.1:p.Glu243Lys
XR_001748638.1:n.1960G>A