Canonical Allele Identifier: CA121077
Gene: ALAS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 10469
ClinVar RCV Id: RCV000011215
dbSNP Id: rs137852300
MyVariant Identifiers: chrX:g.55042016G>C (hg19) chrX:g.55015583G>C (hg38)
PubMed: PMID:8107717 PMID:16121195
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.55015583G>C , CM000685.2:g.55015583G>C GRCh38
NC_000023.10:g.55042016G>C , CM000685.1:g.55042016G>C GRCh37
NC_000023.9:g.55058741G>C NCBI36
NG_008983.1:g.20482C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000650242.1:c.1163C>G MANE Select ENSP00000497236.1:p.Thr388Ser
ENST00000330807.9:c.1163C>G ENSP00000332369.5:p.Thr388Ser
ENST00000335854.8:c.1052C>G ENSP00000337131.4:p.Thr351Ser
ENST00000396198.7:c.1124C>G ENSP00000379501.3:p.Thr375Ser
ENST00000498636.1:n.454C>G
NM_000032.4:c.1163C>G NP_000023.2:p.Thr388Ser
NM_001037967.3:c.1052C>G NP_001033056.1:p.Thr351Ser
NM_001037968.3:c.1124C>G NP_001033057.1:p.Thr375Ser
XM_005261995.2:c.1235C>G XP_005262052.1:p.Thr412Ser
XM_011530771.1:c.302C>G XP_011529073.1:p.Thr101Ser
NM_000032.5:c.1163C>G MANE Select NP_000023.2:p.Thr388Ser
NM_001037967.4:c.1052C>G NP_001033056.1:p.Thr351Ser
NM_001037968.4:c.1124C>G NP_001033057.1:p.Thr375Ser
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