Canonical Allele Identifier: CA6895332

Gene: ANKLE2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132730090G>A , CM000674.2:g.132730090G>A	GRCh38
NC_000012.11:g.133306676G>A , CM000674.1:g.133306676G>A	GRCh37
NC_000012.10:g.131816749G>A	NCBI36
NG_034022.1:g.36799C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015114.3:c.2072C>T MANE Select	NP_055929.1:p.Pro691Leu
ENST00000357997.10:c.2072C>T MANE Select	ENSP00000350686.5:p.Pro691Leu
NM_015114.2:c.2072C>T	NP_055929.1:p.Pro691Leu
ENST00000357997.9:c.2072C>T	ENSP00000350686.5:p.Pro691Leu
ENST00000505031.6:n.2494C>T
ENST00000538766.1:c.137C>T	ENSP00000445760.1:p.Pro46Leu
ENST00000539605.5:n.8571C>T
ENST00000542282.5:c.137C>T	ENSP00000437807.1:p.Pro46Leu
ENST00000542374.5:n.226-1927C>T
ENST00000542657.5:c.137C>T	ENSP00000438551.1:p.Pro46Leu
XM_005266159.2:c.1886C>T	XP_005266216.1:p.Pro629Leu
XM_005266159.3:c.1886C>T	XP_005266216.1:p.Pro629Leu
XM_005266160.1:c.1886C>T	XP_005266217.1:p.Pro629Leu
XM_005266160.2:c.1886C>T	XP_005266217.1:p.Pro629Leu
XM_006719735.1:c.1892-1927C>T	XP_006719798.1:n.1892-1927C>T
XM_011534789.1:c.761C>T	XP_011533091.1:p.Pro254Leu
XM_024448899.1:c.761C>T	XP_024304667.1:p.Pro254Leu
XR_001748638.1:n.1994C>T