Canonical Allele Identifier: CA233274
Gene: IARS2 HGNC NCBI
COSMIC:
COSM281840
MyVariant.info:
GRCh38 chr1:g.220137990G>A
GRCh37 chr1:g.220311332G>A
Revel Score:
ENST00000366922 (MANE Select) 0.428
ENST00000302637 0.428
gnomAD v2:
1:220311332 G / A
gnomAD v3:
1:220137990 G / A
gnomAD v4:
chr1-220137990-G-A
Joint Max Group AF 0.00250706 (SAS)
Genomes Max Group AF 0.00115508 (NFE)
Exomes Max Group AF 0.00254789 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220137990G>A , CM000663.2:g.220137990G>A GRCh38
NC_000001.10:g.220311332G>A , CM000663.1:g.220311332G>A GRCh37
NC_000001.9:g.218377955G>A NCBI36
NG_041799.1:g.48878G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366922.3:c.2122G>A MANE Select ENSP00000355889.2:p.Glu708Lys
ENST00000366922.2:c.2122G>A ENSP00000355889.2:p.Glu708Lys
ENST00000488777.1:n.349G>A
NM_018060.3:c.2122G>A NP_060530.3:p.Glu708Lys
NM_018060.4:c.2122G>A MANE Select NP_060530.3:p.Glu708Lys
Search 100 bp 5'
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