Canonical Allele Identifier: CA171024
Gene: IARS2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.220143109C>T
GRCh37 chr1:g.220316451C>T
Revel Score:
ENST00000366922 (MANE Select) 0.818
ENST00000302637 0.818
gnomAD v4:
chr1-220143109-C-T
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
ClinVar RCV:
RCV000144718
RCV000144954
ClinVar Variation:
156553
dbSNP:
587783070
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220143109C>T , CM000663.2:g.220143109C>T GRCh38
NC_000001.10:g.220316451C>T , CM000663.1:g.220316451C>T GRCh37
NC_000001.9:g.218383074C>T NCBI36
NG_041799.1:g.53997C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366922.3:c.2726C>T MANE Select ENSP00000355889.2:p.Pro909Leu
ENST00000366922.2:c.2726C>T ENSP00000355889.2:p.Pro909Leu
ENST00000467924.1:n.421C>T
NM_018060.3:c.2726C>T NP_060530.3:p.Pro909Leu
NM_018060.4:c.2726C>T MANE Select NP_060530.3:p.Pro909Leu
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