Canonical Allele Identifier: CA387352395
Community Standard Title: NM_015114.3(ANKLE2):c.1870C>T (p.Arg624Ter)
Gene: ANKLE2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132734406G>A , CM000674.2:g.132734406G>A GRCh38
NC_000012.11:g.133310992G>A , CM000674.1:g.133310992G>A GRCh37
NC_000012.10:g.131821065G>A NCBI36
NG_034022.1:g.32483C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015114.3:c.1870C>T MANE Select NP_055929.1:p.Arg624Ter
ENST00000357997.10:c.1870C>T MANE Select ENSP00000350686.5:p.Arg624Ter
NM_015114.2:c.1870C>T NP_055929.1:p.Arg624Ter
ENST00000357997.9:c.1870C>T ENSP00000350686.5:p.Arg624Ter
ENST00000439231.6:n.1590C>T
ENST00000505031.6:n.2292C>T
ENST00000538766.1:c.-66C>T ENSP00000445760.1:n.-66C>T
ENST00000539605.5:n.8369C>T
ENST00000542374.5:n.204C>T
XM_005266159.2:c.1684C>T XP_005266216.1:p.Arg562Ter
XM_005266159.3:c.1684C>T XP_005266216.1:p.Arg562Ter
XM_005266160.1:c.1684C>T XP_005266217.1:p.Arg562Ter
XM_005266160.2:c.1684C>T XP_005266217.1:p.Arg562Ter
XM_005266161.1:c.*72C>T XP_005266218.1:n.*72C>T
XM_006719735.1:c.1870C>T XP_006719798.1:p.Arg624Ter
XM_011534787.1:c.1870C>T XP_011533089.1:p.Arg624Ter
XM_011534787.3:c.1870C>T XP_011533089.1:p.Arg624Ter
XM_011534788.1:c.1870C>T XP_011533090.1:p.Arg624Ter
XM_011534789.1:c.559C>T XP_011533091.1:p.Arg187Ter
XM_024448899.1:c.559C>T XP_024304667.1:p.Arg187Ter
XR_001748638.1:n.1792C>T