Canonical Allele Identifier: CA340984

Gene: ALAS2

Linked Data

• ClinVar Variation Id: 10483
• ClinVar RCV Id: RCV000011229
• dbSNP Id: rs387906473
• MyVariant Identifiers: chrX:g.55035677_55035678del (hg19) ; chrX:g.55009244_55009245del (hg38)
• PubMed: PMID:18760763 ; PMID:23409301

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55009244_55009245del , CM000685.2:g.55009244_55009245del	GRCh38
NC_000023.10:g.55035677_55035678del , CM000685.1:g.55035677_55035678del	GRCh37
NC_000023.9:g.55052402_55052403del	NCBI36
NG_008983.1:g.26820_26821del
NG_012568.1:g.13898_13899del

Transcript Alleles

HGVS	Amino-acid change
ENST00000650242.1:c.1699_1700del MANE Select	ENSP00000497236.1:p.Met567GlufsTer2
ENST00000330807.9:c.1699_1700del	ENSP00000332369.5:p.Met567GlufsTer2
ENST00000335854.8:c.1588_1589del	ENSP00000337131.4:p.Met530GlufsTer2
ENST00000396198.7:c.1660_1661del	ENSP00000379501.3:p.Met554GlufsTer2
ENST00000498636.1:n.827_828del
NM_000032.4:c.1699_1700del	NP_000023.2:p.Met567GlufsTer2
NM_001037967.3:c.1588_1589del	NP_001033056.1:p.Met530GlufsTer2
NM_001037968.3:c.1660_1661del	NP_001033057.1:p.Met554GlufsTer2
XM_005261995.2:c.1771_1772del	XP_005262052.1:p.Met591GlufsTer2
XM_011530771.1:c.838_839del	XP_011529073.1:p.Met280GlufsTer2
NM_000032.5:c.1699_1700del MANE Select	NP_000023.2:p.Met567GlufsTer2
NM_001037967.4:c.1588_1589del	NP_001033056.1:p.Met530GlufsTer2
NM_001037968.4:c.1660_1661del	NP_001033057.1:p.Met554GlufsTer2