Canonical Allele Identifier: CA392790237
Gene: ALDH1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1429505348

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.58010752T>G , CM000677.2:g.58010752T>G GRCh38
NC_000015.9:g.58302950T>G , CM000677.1:g.58302950T>G GRCh37
NC_000015.8:g.56090242T>G NCBI36
NG_012259.1:g.59957A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000249750.9:c.390A>C MANE Select ENSP00000249750.4:p.Lys130Asn
ENST00000249750.8:c.390A>C ENSP00000249750.4:p.Lys130Asn
ENST00000347587.7:c.390A>C ENSP00000309623.3:p.Lys130Asn
ENST00000430119.6:c.*364A>C ENSP00000416754.2:n.*364A>C
ENST00000537372.5:c.327A>C ENSP00000438296.1:p.Lys109Asn
ENST00000558231.5:c.303A>C ENSP00000453600.1:p.Lys101Asn
ENST00000559266.5:n.318+3106A>C
ENST00000559517.5:c.102A>C ENSP00000453408.1:p.Lys34Asn
ENST00000561070.5:c.102A>C ENSP00000452850.1:p.Lys34Asn
NM_001206897.1:c.327A>C NP_001193826.1:p.Lys109Asn
NM_003888.3:c.390A>C NP_003879.2:p.Lys130Asn
NM_170696.2:c.390A>C NP_733797.1:p.Lys130Asn
NM_170697.2:c.102A>C NP_733798.1:p.Lys34Asn
XM_024450095.1:c.390A>C XP_024305863.1:p.Lys130Asn
NM_003888.4:c.390A>C MANE Select NP_003879.2:p.Lys130Asn
NM_170696.3:c.390A>C NP_733797.1:p.Lys130Asn
NM_170697.3:c.102A>C NP_733798.1:p.Lys34Asn
NM_001206897.2:c.327A>C NP_001193826.1:p.Lys109Asn