Canonical Allele Identifier: CA641383267

Gene: ALAS2

Linked Data

• dbSNP Id: rs376523169
• gnomAD v2: X-55047413-C-CTT
• gnomAD v3: X-55020980-C-CTT
• gnomAD v4: X-55020980-C-CTT
• MyVariant Identifiers: chrX:g.55047415_55047416insTT (hg19) ; chrX:g.55047413_55047414insTT (hg19) ; chrX:g.55020982_55020983insTT (hg38) ; chrX:g.55020980_55020981insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55020991_55020992dup , CM000685.2:g.55020991_55020992dup	GRCh38
NC_000023.10:g.55047424_55047425dup , CM000685.1:g.55047424_55047425dup	GRCh37
NC_000023.9:g.55064149_55064150dup	NCBI36
NG_008983.1:g.15083_15084dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000455688.2:c.422+70_422+71dup	ENSP00000407204.2:n.422+70_422+71dup
ENST00000477869.6:c.311+70_311+71dup	ENSP00000496725.1:n.311+70_311+71dup
ENST00000493869.2:c.305-478_305-477dup	ENSP00000495713.1:n.305-478_305-477dup
ENST00000650242.1:c.638+70_638+71dup MANE Select	ENSP00000497236.1:n.638+70_638+71dup
ENST00000330807.9:c.638+70_638+71dup	ENSP00000332369.5:n.638+70_638+71dup
ENST00000335854.8:c.527+70_527+71dup	ENSP00000337131.4:n.527+70_527+71dup
ENST00000396198.7:c.599+70_599+71dup	ENSP00000379501.3:n.599+70_599+71dup
ENST00000455688.1:c.493+70_493+71dup
ENST00000463868.5:n.356-478_356-477dup
ENST00000477869.5:n.382+70_382+71dup
ENST00000493869.1:n.578+70_578+71dup
NM_000032.4:c.638+70_638+71dup	NP_000023.2:n.638+70_638+71dup
NM_001037967.3:c.527+70_527+71dup	NP_001033056.1:n.527+70_527+71dup
NM_001037968.3:c.599+70_599+71dup	NP_001033057.1:n.599+70_599+71dup
XM_005261995.2:c.710+70_710+71dup	XP_005262052.1:n.710+70_710+71dup
XM_011530771.1:c.-223-478_-223-477dup	XP_011529073.1:n.-223-478_-223-477dup
NM_000032.5:c.638+70_638+71dup MANE Select	NP_000023.2:n.638+70_638+71dup
NM_001037967.4:c.527+70_527+71dup	NP_001033056.1:n.527+70_527+71dup
NM_001037968.4:c.599+70_599+71dup	NP_001033057.1:n.599+70_599+71dup