Canonical Allele Identifier: CA328967863

Gene: ALAS2

Linked Data

• ClinVar Variation Id: 2634710
• ClinVar RCV Id: RCV003427920 ; RCV003679204
• dbSNP Id: rs149747514
• MyVariant Identifiers: chrX:g.55035682C>G (hg19) ; chrX:g.55009249C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55009249C>G , CM000685.2:g.55009249C>G	GRCh38
NC_000023.10:g.55035682C>G , CM000685.1:g.55035682C>G	GRCh37
NC_000023.9:g.55052407C>G	NCBI36
NG_008983.1:g.26816G>C
NG_012568.1:g.13903C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650242.1:c.1695G>C MANE Select	ENSP00000497236.1:p.Glu565Asp
ENST00000330807.9:c.1695G>C	ENSP00000332369.5:p.Glu565Asp
ENST00000335854.8:c.1584G>C	ENSP00000337131.4:p.Glu528Asp
ENST00000396198.7:c.1656G>C	ENSP00000379501.3:p.Glu552Asp
ENST00000498636.1:n.823G>C
NM_000032.4:c.1695G>C	NP_000023.2:p.Glu565Asp
NM_001037967.3:c.1584G>C	NP_001033056.1:p.Glu528Asp
NM_001037968.3:c.1656G>C	NP_001033057.1:p.Glu552Asp
XM_005261995.2:c.1767G>C	XP_005262052.1:p.Glu589Asp
XM_011530771.1:c.834G>C	XP_011529073.1:p.Glu278Asp
NM_000032.5:c.1695G>C MANE Select	NP_000023.2:p.Glu565Asp
NM_001037967.4:c.1584G>C	NP_001033056.1:p.Glu528Asp
NM_001037968.4:c.1656G>C	NP_001033057.1:p.Glu552Asp