Canonical Allele Identifier: CA121081
Gene: ALAS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 10472
ClinVar RCV Id: RCV000011218
dbSNP Id: rs137852303
MyVariant Identifiers: chrX:g.55044027T>G (hg19) chrX:g.55017594T>G (hg38)
PubMed: PMID:7560104 PMID:16121195
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.55017594T>G , CM000685.2:g.55017594T>G GRCh38
NC_000023.10:g.55044027T>G , CM000685.1:g.55044027T>G GRCh37
NC_000023.9:g.55060752T>G NCBI36
NG_008983.1:g.18471A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650242.1:c.895A>C MANE Select ENSP00000497236.1:p.Lys299Gln
ENST00000330807.9:c.895A>C ENSP00000332369.5:p.Lys299Gln
ENST00000335854.8:c.784A>C ENSP00000337131.4:p.Lys262Gln
ENST00000396198.7:c.856A>C ENSP00000379501.3:p.Lys286Gln
ENST00000463868.5:n.612A>C
ENST00000498636.1:n.186A>C
NM_000032.4:c.895A>C NP_000023.2:p.Lys299Gln
NM_001037967.3:c.784A>C NP_001033056.1:p.Lys262Gln
NM_001037968.3:c.856A>C NP_001033057.1:p.Lys286Gln
XM_005261995.2:c.967A>C XP_005262052.1:p.Lys323Gln
XM_011530771.1:c.34A>C XP_011529073.1:p.Lys12Gln
NM_000032.5:c.895A>C MANE Select NP_000023.2:p.Lys299Gln
NM_001037967.4:c.784A>C NP_001033056.1:p.Lys262Gln
NM_001037968.4:c.856A>C NP_001033057.1:p.Lys286Gln
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