Canonical Allele Identifier: CA714257524

Gene: ALDH1A2

Linked Data

• dbSNP Id: rs1196301824
• gnomAD v3: 15-58010200-GC-G
• gnomAD v4: 15-58010200-GC-G
• MyVariant Identifiers: chr15:g.58302399del (hg19) ; chr15:g.58010201del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.58010202del , CM000677.2:g.58010202del	GRCh38
NC_000015.9:g.58302400del , CM000677.1:g.58302400del	GRCh37
NC_000015.8:g.56089692del	NCBI36
NG_012259.1:g.60508del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249750.9:c.493+448del MANE Select	ENSP00000249750.4:n.493+448del
ENST00000249750.8:c.493+448del	ENSP00000249750.4:n.493+448del
ENST00000347587.7:c.493+448del	ENSP00000309623.3:n.493+448del
ENST00000430119.6:c.*467+448del	ENSP00000416754.2:n.*467+448del
ENST00000537372.5:c.430+448del	ENSP00000438296.1:n.430+448del
ENST00000558231.5:c.406+448del	ENSP00000453600.1:n.406+448del
ENST00000559266.5:n.318+3657del
ENST00000559517.5:c.205+448del	ENSP00000453408.1:n.205+448del
ENST00000561070.5:c.205+448del	ENSP00000452850.1:n.205+448del
NM_001206897.1:c.430+448del	NP_001193826.1:n.430+448del
NM_003888.3:c.493+448del	NP_003879.2:n.493+448del
NM_170696.2:c.493+448del	NP_733797.1:n.493+448del
NM_170697.2:c.205+448del	NP_733798.1:n.205+448del
XM_024450095.1:c.493+448del	XP_024305863.1:n.493+448del
NM_003888.4:c.493+448del MANE Select	NP_003879.2:n.493+448del
NM_170696.3:c.493+448del	NP_733797.1:n.493+448del
NM_170697.3:c.205+448del	NP_733798.1:n.205+448del
NM_001206897.2:c.430+448del	NP_001193826.1:n.430+448del