Canonical Allele Identifier: CA641383268

Gene: ALAS2

Linked Data

• dbSNP Id: rs1935795054
• gnomAD v2: X-55047425-TCCATGTGTGG-T
• gnomAD v3: X-55020992-TCCATGTGTGG-T
• gnomAD v4: X-55020992-TCCATGTGTGG-T
• MyVariant Identifiers: chrX:g.55047426_55047435del (hg19) ; chrX:g.55020993_55021002del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55020993_55021002del , CM000685.2:g.55020993_55021002del	GRCh38
NC_000023.10:g.55047426_55047435del , CM000685.1:g.55047426_55047435del	GRCh37
NC_000023.9:g.55064151_55064160del	NCBI36
NG_008983.1:g.15063_15072del

Transcript Alleles

HGVS	Amino-acid change
ENST00000455688.2:c.422+50_422+59del	ENSP00000407204.2:n.422+50_422+59del
ENST00000477869.6:c.311+50_311+59del	ENSP00000496725.1:n.311+50_311+59del
ENST00000493869.2:c.305-498_305-489del	ENSP00000495713.1:n.305-498_305-489del
ENST00000650242.1:c.638+50_638+59del MANE Select	ENSP00000497236.1:n.638+50_638+59del
ENST00000330807.9:c.638+50_638+59del	ENSP00000332369.5:n.638+50_638+59del
ENST00000335854.8:c.527+50_527+59del	ENSP00000337131.4:n.527+50_527+59del
ENST00000396198.7:c.599+50_599+59del	ENSP00000379501.3:n.599+50_599+59del
ENST00000455688.1:c.493+50_493+59del
ENST00000463868.5:n.356-498_356-489del
ENST00000477869.5:n.382+50_382+59del
ENST00000493869.1:n.578+50_578+59del
NM_000032.4:c.638+50_638+59del	NP_000023.2:n.638+50_638+59del
NM_001037967.3:c.527+50_527+59del	NP_001033056.1:n.527+50_527+59del
NM_001037968.3:c.599+50_599+59del	NP_001033057.1:n.599+50_599+59del
XM_005261995.2:c.710+50_710+59del	XP_005262052.1:n.710+50_710+59del
XM_011530771.1:c.-223-498_-223-489del	XP_011529073.1:n.-223-498_-223-489del
NM_000032.5:c.638+50_638+59del MANE Select	NP_000023.2:n.638+50_638+59del
NM_001037967.4:c.527+50_527+59del	NP_001033056.1:n.527+50_527+59del
NM_001037968.4:c.599+50_599+59del	NP_001033057.1:n.599+50_599+59del