Canonical Allele Identifier: CA246338715
Community Standard Title: NM_015114.3(ANKLE2):c.2154C>T (p.Ala718=)
Gene: ANKLE2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132730008G>A , CM000674.2:g.132730008G>A GRCh38
NC_000012.11:g.133306594G>A , CM000674.1:g.133306594G>A GRCh37
NC_000012.10:g.131816667G>A NCBI36
NG_034022.1:g.36881C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015114.3:c.2154C>T MANE Select NP_055929.1:p.Ala718=
ENST00000357997.10:c.2154C>T MANE Select ENSP00000350686.5:p.Ala718=
NM_015114.2:c.2154C>T NP_055929.1:p.Ala718=
ENST00000357997.9:c.2154C>T ENSP00000350686.5:p.Ala718=
ENST00000505031.6:n.2576C>T
ENST00000538766.1:c.219C>T ENSP00000445760.1:p.Ala73=
ENST00000539605.5:n.8653C>T
ENST00000542282.5:c.219C>T ENSP00000437807.1:p.Ala73=
ENST00000542374.5:n.226-1845C>T
ENST00000542657.5:c.219C>T ENSP00000438551.1:p.Ala73=
XM_005266159.2:c.1968C>T XP_005266216.1:p.Ala656=
XM_005266159.3:c.1968C>T XP_005266216.1:p.Ala656=
XM_005266160.1:c.1968C>T XP_005266217.1:p.Ala656=
XM_005266160.2:c.1968C>T XP_005266217.1:p.Ala656=
XM_006719735.1:c.1892-1845C>T XP_006719798.1:n.1892-1845C>T
XM_011534789.1:c.843C>T XP_011533091.1:p.Ala281=
XM_024448899.1:c.843C>T XP_024304667.1:p.Ala281=
XR_001748638.1:n.2076C>T