Canonical Allele Identifier: CA248441
Gene: ALDH1A2 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.58396268C>G
GRCh37 chr15:g.58688467C>G
gnomAD v2:
15:58688467 C / G
gnomAD v3:
15:58396268 C / G
gnomAD v4:
chr15-58396268-C-G
Joint Max Group AF 0.76139522 (EAS)
Genomes Max Group AF 0.76139522 (EAS)
ClinVar RCV:
RCV000190312
ClinVar Variation:
162175
dbSNP:
920915
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.58396268C>G , CM000677.2:g.58396268C>G GRCh38
NC_000015.9:g.58688467C>G , CM000677.1:g.58688467C>G GRCh37
NC_000015.8:g.56475759C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000558239.5:c.-172+23703G>C ENSP00000453292.1:n.-172+23703G>C
ENST00000560863.5:n.415+23703G>C
XR_429537.2:n.164+23703G>C
XR_932289.1:n.165-11412G>C
XR_001751556.2:n.216+23703G>C
XR_001751557.2:n.216+23703G>C
XR_001751558.2:n.216+23703G>C
XR_001751559.2:n.216+23703G>C
XR_001751560.2:n.216+23703G>C
XR_001751563.2:n.216+23703G>C
XR_001751565.2:n.217-7772G>C
XR_429537.4:n.216+23703G>C
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