Canonical Allele Identifier: CA392790088

Gene: ALDH1A2

Linked Data

• gnomAD v4: 15-58010700-G-A
• COSMIC: COSM963321
• MyVariant Identifiers: chr15:g.58302898G>A (hg19) ; chr15:g.58010700G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.58010700G>A , CM000677.2:g.58010700G>A	GRCh38
NC_000015.9:g.58302898G>A , CM000677.1:g.58302898G>A	GRCh37
NC_000015.8:g.56090190G>A	NCBI36
NG_012259.1:g.60009C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249750.9:c.442C>T MANE Select	ENSP00000249750.4:p.Arg148Ter
ENST00000249750.8:c.442C>T	ENSP00000249750.4:p.Arg148Ter
ENST00000347587.7:c.442C>T	ENSP00000309623.3:p.Arg148Ter
ENST00000430119.6:c.*416C>T	ENSP00000416754.2:n.*416C>T
ENST00000537372.5:c.379C>T	ENSP00000438296.1:p.Arg127Ter
ENST00000558231.5:c.355C>T	ENSP00000453600.1:p.Arg119Ter
ENST00000559266.5:n.318+3158C>T
ENST00000559517.5:c.154C>T	ENSP00000453408.1:p.Arg52Ter
ENST00000561070.5:c.154C>T	ENSP00000452850.1:p.Arg52Ter
NM_001206897.1:c.379C>T	NP_001193826.1:p.Arg127Ter
NM_003888.3:c.442C>T	NP_003879.2:p.Arg148Ter
NM_170696.2:c.442C>T	NP_733797.1:p.Arg148Ter
NM_170697.2:c.154C>T	NP_733798.1:p.Arg52Ter
XM_024450095.1:c.442C>T	XP_024305863.1:p.Arg148Ter
NM_003888.4:c.442C>T MANE Select	NP_003879.2:p.Arg148Ter
NM_170696.3:c.442C>T	NP_733797.1:p.Arg148Ter
NM_170697.3:c.154C>T	NP_733798.1:p.Arg52Ter
NM_001206897.2:c.379C>T	NP_001193826.1:p.Arg127Ter