Canonical Allele Identifier: CA322955
Gene: ALAS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 214095
ClinVar RCV Id: RCV000198449
dbSNP Id: rs863223901
MyVariant Identifiers: chrX:g.55047517C>T (hg19) chrX:g.55021084C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.55021084C>T , CM000685.2:g.55021084C>T GRCh38
NC_000023.10:g.55047517C>T , CM000685.1:g.55047517C>T GRCh37
NC_000023.9:g.55064242C>T NCBI36
NG_008983.1:g.14981G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000455688.2:c.390G>A ENSP00000407204.2:p.Met130Ile
ENST00000477869.6:c.279G>A ENSP00000496725.1:p.Met93Ile
ENST00000493869.2:c.305-580G>A ENSP00000495713.1:n.305-580G>A
ENST00000650242.1:c.606G>A MANE Select ENSP00000497236.1:p.Met202Ile
ENST00000330807.9:c.606G>A ENSP00000332369.5:p.Met202Ile
ENST00000335854.8:c.495G>A ENSP00000337131.4:p.Met165Ile
ENST00000396198.7:c.567G>A ENSP00000379501.3:p.Met189Ile
ENST00000455688.1:c.461G>A
ENST00000463868.5:n.356-580G>A
ENST00000477869.5:n.350G>A
ENST00000493869.1:n.546G>A
NM_000032.4:c.606G>A NP_000023.2:p.Met202Ile
NM_001037967.3:c.495G>A NP_001033056.1:p.Met165Ile
NM_001037968.3:c.567G>A NP_001033057.1:p.Met189Ile
XM_005261995.2:c.678G>A XP_005262052.1:p.Met226Ile
XM_011530771.1:c.-223-580G>A XP_011529073.1:n.-223-580G>A
NM_000032.5:c.606G>A MANE Select NP_000023.2:p.Met202Ile
NM_001037967.4:c.495G>A NP_001033056.1:p.Met165Ile
NM_001037968.4:c.567G>A NP_001033057.1:p.Met189Ile
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