Canonical Allele Identifier: CA2063463755

Gene: ALDH2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111806441_111806454delinsGGCAAATGGGTTGA , CM000674.2:g.111806441_111806454delinsGGCAAATGGGTTGA	GRCh38
NC_000012.11:g.112244245_112244258delinsGGCAAATGGGTTGA , CM000674.1:g.112244245_112244258delinsGGCAAATGGGTTGA	GRCh37
NC_000012.10:g.110728628_110728641delinsGGCAAATGGGTTGA	NCBI36
NG_012250.1:g.44900_44913delinsGGCAAATGGGTTGA
NG_012250.2:g.44555_44568delinsGGCAAATGGGTTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261733.7:c.1521+2468_1521+2481delinsGGCAAATGGGTTGA MANE Select	ENSP00000261733.2:n.1521+2468_1521+2481delinsGGCAAATGGGTTGA
ENST00000261733.6:c.1521+2468_1521+2481delinsGGCAAATGGGTTGA	ENSP00000261733.2:n.1521+2468_1521+2481delinsGGCAAATGGGTTGA
ENST00000416293.7:c.1380+2468_1380+2481delinsGGCAAATGGGTTGA	ENSP00000403349.3:n.1380+2468_1380+2481delinsGGCAAATGGGTTGA
ENST00000548536.1:c.*1397+2468_*1397+2481delinsGGCAAATGGGTTGA	ENSP00000448179.1:n.*1397+2468_*1397+2481delinsGGCAAATGGGTTGA...
ENST00000549106.1:c.452+2468_452+2481delinsGGCAAATGGGTTGA
NM_000690.3:c.1521+2468_1521+2481delinsGGCAAATGGGTTGA	NP_000681.2:n.1521+2468_1521+2481delinsGGCAAATGGGTTGA
NM_001204889.1:c.1380+2468_1380+2481delinsGGCAAATGGGTTGA	NP_001191818.1:n.1380+2468_1380+2481delinsGGCAAATGGGTTGA
NM_000690.4:c.1521+2468_1521+2481delinsGGCAAATGGGTTGA MANE Select	NP_000681.2:n.1521+2468_1521+2481delinsGGCAAATGGGTTGA
NM_001204889.2:c.1380+2468_1380+2481delinsGGCAAATGGGTTGA	NP_001191818.1:n.1380+2468_1380+2481delinsGGCAAATGGGTTGA