Canonical Allele Identifier: CA2693863843

Gene: ALAS2

Linked Data

• gnomAD v4: X-55009251-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55009254dup , CM000685.2:g.55009254dup	GRCh38
NC_000023.10:g.55035687dup , CM000685.1:g.55035687dup	GRCh37
NC_000023.9:g.55052412dup	NCBI36
NG_008983.1:g.26813dup
NG_012568.1:g.13908dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650242.1:c.1692dup MANE Select	ENSP00000497236.1:p.Glu565Ter
ENST00000330807.9:c.1692dup	ENSP00000332369.5:p.Glu565Ter
ENST00000335854.8:c.1581dup	ENSP00000337131.4:p.Glu528Ter
ENST00000396198.7:c.1653dup	ENSP00000379501.3:p.Glu552Ter
ENST00000498636.1:n.820dup
NM_000032.4:c.1692dup	NP_000023.2:p.Glu565Ter
NM_001037967.3:c.1581dup	NP_001033056.1:p.Glu528Ter
NM_001037968.3:c.1653dup	NP_001033057.1:p.Glu552Ter
XM_005261995.2:c.1764dup	XP_005262052.1:p.Glu589Ter
XM_011530771.1:c.831dup	XP_011529073.1:p.Glu278Ter
NM_000032.5:c.1692dup MANE Select	NP_000023.2:p.Glu565Ter
NM_001037967.4:c.1581dup	NP_001033056.1:p.Glu528Ter
NM_001037968.4:c.1653dup	NP_001033057.1:p.Glu552Ter