Canonical Allele Identifier: CA346331418

Gene: ATL2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.38298487C>T , CM000664.2:g.38298487C>T	GRCh38
NC_000002.11:g.38525629C>T , CM000664.1:g.38525629C>T	GRCh37
NC_000002.10:g.38379133C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378954.9:c.1289G>A MANE Select	ENSP00000368237.4:p.Arg430His
ENST00000651368.1:c.776G>A	ENSP00000498813.1:p.Arg259His
ENST00000378954.8:c.1289G>A	ENSP00000368237.4:p.Arg430His
ENST00000402054.5:c.776G>A	ENSP00000384062.1:p.Arg259His
ENST00000405384.6:c.*894G>A	ENSP00000383944.2:n.*894G>A
ENST00000406122.5:c.776G>A	ENSP00000385446.1:p.Arg259His
ENST00000419554.6:c.1289G>A	ENSP00000415336.2:p.Arg430His
ENST00000452935.6:c.1235G>A	ENSP00000390743.2:p.Arg412His
ENST00000477642.5:n.208G>A
ENST00000489896.1:n.323G>A
ENST00000629272.2:c.776G>A	ENSP00000486809.1:p.Arg259His
NM_001135673.1:c.1289G>A	NP_001129145.1:p.Arg430His
NM_001135673.2:c.1289G>A	NP_001129145.1:p.Arg430His
NM_001308076.1:c.1235G>A	NP_001295005.1:p.Arg412His
NM_022374.2:c.1289G>A	NP_071769.2:p.Arg430His
NM_022374.3:c.1289G>A	NP_071769.2:p.Arg430His
NR_024191.1:n.1074G>A
XM_006712072.2:c.1346G>A	XP_006712135.2:p.Arg449His
XM_011533017.1:c.1289G>A	XP_011531319.1:p.Arg430His
XM_011533018.1:c.1274G>A	XP_011531320.1:p.Arg425His
XM_011533019.1:c.1235G>A	XP_011531321.1:p.Arg412His
XM_011533020.1:c.1127G>A	XP_011531322.1:p.Arg376His
XM_011533021.1:c.1127G>A	XP_011531323.1:p.Arg376His
XM_011533022.1:c.776G>A	XP_011531324.1:p.Arg259His
XM_011533023.1:c.608G>A	XP_011531325.1:p.Arg203His
NM_001135673.3:c.1289G>A	NP_001129145.1:p.Arg430His
NM_001330458.1:c.776G>A	NP_001317387.1:p.Arg259His
NM_001330459.1:c.1235G>A	NP_001317388.1:p.Arg412His
NM_001330460.1:c.776G>A	NP_001317389.1:p.Arg259His
NM_001330461.1:c.776G>A	NP_001317390.1:p.Arg259His
NM_001330462.1:c.1274G>A	NP_001317391.1:p.Arg425His
NM_001330463.1:c.1289G>A	NP_001317392.1:p.Arg430His
NM_001330464.1:c.608G>A	NP_001317393.1:p.Arg203His
NM_022374.4:c.1289G>A	NP_071769.2:p.Arg430His
NM_001135673.4:c.1289G>A MANE Select	NP_001129145.1:p.Arg430His
NM_001330461.2:c.776G>A	NP_001317390.1:p.Arg259His
NM_001330463.2:c.1289G>A	NP_001317392.1:p.Arg430His
NM_001330464.2:c.608G>A	NP_001317393.1:p.Arg203His
NM_022374.5:c.1289G>A	NP_071769.2:p.Arg430His
NM_001330458.2:c.776G>A	NP_001317387.1:p.Arg259His