Canonical Allele Identifier: CA246291986

Gene: ANKLE2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132734198T>C , CM000674.2:g.132734198T>C	GRCh38
NC_000012.11:g.133310784T>C , CM000674.1:g.133310784T>C	GRCh37
NC_000012.10:g.131820857T>C	NCBI36
NG_034022.1:g.32691A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015114.3:c.1891+187A>G MANE Select	NP_055929.1:n.1891+187A>G
ENST00000357997.10:c.1891+187A>G MANE Select	ENSP00000350686.5:n.1891+187A>G
NM_015114.2:c.1891+187A>G	NP_055929.1:n.1891+187A>G
ENST00000357997.9:c.1891+187A>G	ENSP00000350686.5:n.1891+187A>G
ENST00000439231.6:n.1612-127A>G
ENST00000505031.6:n.2313+187A>G
ENST00000538766.1:c.-45+187A>G	ENSP00000445760.1:n.-45+187A>G
ENST00000539605.5:n.8390+187A>G
ENST00000542374.5:n.225+187A>G
XM_005266159.2:c.1705+187A>G	XP_005266216.1:n.1705+187A>G
XM_005266159.3:c.1705+187A>G	XP_005266216.1:n.1705+187A>G
XM_005266160.1:c.1705+187A>G	XP_005266217.1:n.1705+187A>G
XM_005266160.2:c.1705+187A>G	XP_005266217.1:n.1705+187A>G
XM_006719735.1:c.1891+187A>G	XP_006719798.1:n.1891+187A>G
XM_011534787.1:c.1892-127A>G	XP_011533089.1:n.1892-127A>G
XM_011534787.3:c.1892-127A>G	XP_011533089.1:n.1892-127A>G
XM_011534788.1:c.1892-127A>G	XP_011533090.1:n.1892-127A>G
XM_011534789.1:c.580+187A>G	XP_011533091.1:n.580+187A>G
XM_024448899.1:c.580+187A>G	XP_024304667.1:n.580+187A>G
XR_001748638.1:n.1813+187A>G