Canonical Allele Identifier: CA970271156

Gene: ALDH1A2

Linked Data

• dbSNP Id: rs1895604895
• gnomAD v3: 15-58010658-T-TA
• gnomAD v4: 15-58010658-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.58010658_58010659insA , CM000677.2:g.58010658_58010659insA	GRCh38
NC_000015.9:g.58302856_58302857insA , CM000677.1:g.58302856_58302857insA	GRCh37
NC_000015.8:g.56090148_56090149insA	NCBI36
NG_012259.1:g.60050_60051insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249750.9:c.483_484insT MANE Select	ENSP00000249750.4:p.Ile162TyrfsTer14
ENST00000249750.8:c.483_484insT	ENSP00000249750.4:p.Ile162TyrfsTer14
ENST00000347587.7:c.483_484insT	ENSP00000309623.3:p.Ile162TyrfsTer14
ENST00000430119.6:c.*457_*458insT	ENSP00000416754.2:n.*457_*458insT
ENST00000537372.5:c.420_421insT	ENSP00000438296.1:p.Ile141TyrfsTer14
ENST00000558231.5:c.396_397insT	ENSP00000453600.1:p.Ile133TyrfsTer14
ENST00000559266.5:n.318+3199_318+3200insT
ENST00000559517.5:c.195_196insT	ENSP00000453408.1:p.Ile66TyrfsTer14
ENST00000561070.5:c.195_196insT	ENSP00000452850.1:p.Ile66TyrfsTer14
NM_001206897.1:c.420_421insT	NP_001193826.1:p.Ile141TyrfsTer14
NM_003888.3:c.483_484insT	NP_003879.2:p.Ile162TyrfsTer14
NM_170696.2:c.483_484insT	NP_733797.1:p.Ile162TyrfsTer14
NM_170697.2:c.195_196insT	NP_733798.1:p.Ile66TyrfsTer14
XM_024450095.1:c.483_484insT	XP_024305863.1:p.Ile162TyrfsTer14
NM_003888.4:c.483_484insT MANE Select	NP_003879.2:p.Ile162TyrfsTer14
NM_170696.3:c.483_484insT	NP_733797.1:p.Ile162TyrfsTer14
NM_170697.3:c.195_196insT	NP_733798.1:p.Ile66TyrfsTer14
NM_001206897.2:c.420_421insT	NP_001193826.1:p.Ile141TyrfsTer14