Canonical Allele Identifier: CA128619
Gene: IRS1 HGNC NCBI
COSMIC:
COSM4989734 (not active)
MyVariant.info:
GRCh38 chr2:g.226795828C>T
GRCh37 chr2:g.227660544C>T
Revel Score:
ENST00000305123 (MANE Select) 0.186
gnomAD v2:
2:227660544 C / T
gnomAD v3:
2:226795828 C / T
gnomAD v4:
chr2-226795828-C-T
Joint Max Group AF 0.06707317 (NFE)
Genomes Max Group AF 0.06511243 (NFE)
Exomes Max Group AF 0.06710599 (NFE)
ClinVar RCV:
RCV000022624
RCV000022625
ClinVar Variation:
29761
dbSNP:
1801278
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.226795828C>T , CM000664.2:g.226795828C>T GRCh38
NC_000002.11:g.227660544C>T , CM000664.1:g.227660544C>T GRCh37
NC_000002.10:g.227368788C>T NCBI36
NG_015830.1:g.7963G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305123.6:c.2911G>A MANE Select ENSP00000304895.4:p.Gly971Arg
ENST00000305123.5:c.2911G>A ENSP00000304895.4:p.Gly971Arg
NM_005544.2:c.2911G>A NP_005535.1:p.Gly971Arg
NM_005544.3:c.2911G>A MANE Select NP_005535.1:p.Gly971Arg
Search 100 bp 5'
Search 100 bp 3'