Canonical Allele Identifier: CA2180113521
Gene: ALDH1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.58010154_58010163delinsGAAATATAGA , CM000677.2:g.58010154_58010163delinsGAAATATAGA GRCh38
NC_000015.9:g.58302352_58302361delinsGAAATATAGA , CM000677.1:g.58302352_58302361delinsGAAATATAGA GRCh37
NC_000015.8:g.56089644_56089653delinsGAAATATAGA NCBI36
NG_012259.1:g.60546_60555delinsTCTATATTTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000249750.9:c.493+486_493+495delinsTCTATATTTC MANE Select ENSP00000249750.4:n.493+486_493+495delinsTCTATATTTC
ENST00000249750.8:c.493+486_493+495delinsTCTATATTTC ENSP00000249750.4:n.493+486_493+495delinsTCTATATTTC
ENST00000347587.7:c.493+486_493+495delinsTCTATATTTC ENSP00000309623.3:n.493+486_493+495delinsTCTATATTTC
ENST00000430119.6:c.*467+486_*467+495delinsTCTATATTTC ENSP00000416754.2:n.*467+486_*467+495delinsTCTATATTTC
ENST00000537372.5:c.430+486_430+495delinsTCTATATTTC ENSP00000438296.1:n.430+486_430+495delinsTCTATATTTC
ENST00000558231.5:c.406+486_406+495delinsTCTATATTTC ENSP00000453600.1:n.406+486_406+495delinsTCTATATTTC
ENST00000559266.5:n.318+3695_318+3704delinsTCTATATTTC
ENST00000559517.5:c.205+486_205+495delinsTCTATATTTC ENSP00000453408.1:n.205+486_205+495delinsTCTATATTTC
ENST00000561070.5:c.205+486_205+495delinsTCTATATTTC ENSP00000452850.1:n.205+486_205+495delinsTCTATATTTC
NM_001206897.1:c.430+486_430+495delinsTCTATATTTC NP_001193826.1:n.430+486_430+495delinsTCTATATTTC
NM_003888.3:c.493+486_493+495delinsTCTATATTTC NP_003879.2:n.493+486_493+495delinsTCTATATTTC
NM_170696.2:c.493+486_493+495delinsTCTATATTTC NP_733797.1:n.493+486_493+495delinsTCTATATTTC
NM_170697.2:c.205+486_205+495delinsTCTATATTTC NP_733798.1:n.205+486_205+495delinsTCTATATTTC
XM_024450095.1:c.493+486_493+495delinsTCTATATTTC XP_024305863.1:n.493+486_493+495delinsTCTATATTTC
NM_003888.4:c.493+486_493+495delinsTCTATATTTC MANE Select NP_003879.2:n.493+486_493+495delinsTCTATATTTC
NM_170696.3:c.493+486_493+495delinsTCTATATTTC NP_733797.1:n.493+486_493+495delinsTCTATATTTC
NM_170697.3:c.205+486_205+495delinsTCTATATTTC NP_733798.1:n.205+486_205+495delinsTCTATATTTC
NM_001206897.2:c.430+486_430+495delinsTCTATATTTC NP_001193826.1:n.430+486_430+495delinsTCTATATTTC