Canonical Allele Identifier: CA215062

Gene: ANKLE2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132734559G>C , CM000674.2:g.132734559G>C	GRCh38
NC_000012.11:g.133311145G>C , CM000674.1:g.133311145G>C	GRCh37
NC_000012.10:g.131821218G>C	NCBI36
NG_034022.1:g.32330C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015114.3:c.1717C>G MANE Select	NP_055929.1:p.Leu573Val
ENST00000357997.10:c.1717C>G MANE Select	ENSP00000350686.5:p.Leu573Val
NM_015114.2:c.1717C>G	NP_055929.1:p.Leu573Val
ENST00000357997.9:c.1717C>G	ENSP00000350686.5:p.Leu573Val
ENST00000439231.6:n.1437C>G
ENST00000505031.6:n.2139C>G
ENST00000538766.1:c.-219C>G	ENSP00000445760.1:n.-219C>G
ENST00000539605.5:n.8216C>G
ENST00000542374.5:n.51C>G
XM_005266159.2:c.1531C>G	XP_005266216.1:p.Leu511Val
XM_005266159.3:c.1531C>G	XP_005266216.1:p.Leu511Val
XM_005266160.1:c.1531C>G	XP_005266217.1:p.Leu511Val
XM_005266160.2:c.1531C>G	XP_005266217.1:p.Leu511Val
XM_005266161.1:c.1701-63C>G	XP_005266218.1:n.1701-63C>G
XM_006719735.1:c.1717C>G	XP_006719798.1:p.Leu573Val
XM_011534787.1:c.1717C>G	XP_011533089.1:p.Leu573Val
XM_011534787.3:c.1717C>G	XP_011533089.1:p.Leu573Val
XM_011534788.1:c.1717C>G	XP_011533090.1:p.Leu573Val
XM_011534789.1:c.406C>G	XP_011533091.1:p.Leu136Val
XM_024448899.1:c.406C>G	XP_024304667.1:p.Leu136Val
XR_001748638.1:n.1702-63C>G