Canonical Allele Identifier: CA246319601
Community Standard Title: NM_015114.3(ANKLE2):c.19G>A (p.Ala7Thr)
Gene: ANKLE2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132761780C>T , CM000674.2:g.132761780C>T GRCh38
NC_000012.11:g.133338366C>T , CM000674.1:g.133338366C>T GRCh37
NC_000012.10:g.131848439C>T NCBI36
NG_034022.1:g.5109G>A

Transcript Alleles

HGVS Amino-acid Change
NM_015114.3:c.19G>A MANE Select NP_055929.1:p.Ala7Thr
ENST00000357997.10:c.19G>A MANE Select ENSP00000350686.5:p.Ala7Thr
NM_015114.2:c.19G>A NP_055929.1:p.Ala7Thr
ENST00000357997.9:c.19G>A ENSP00000350686.5:p.Ala7Thr
ENST00000539605.5:n.34G>A
XM_005266161.1:c.19G>A XP_005266218.1:p.Ala7Thr
XM_006719735.1:c.19G>A XP_006719798.1:p.Ala7Thr
XM_011534787.1:c.19G>A XP_011533089.1:p.Ala7Thr
XM_011534787.3:c.19G>A XP_011533089.1:p.Ala7Thr
XM_011534788.1:c.19G>A XP_011533090.1:p.Ala7Thr
XR_001748638.1:n.20G>A