Canonical Allele Identifier: CA119944
Gene: IRS2 HGNC NCBI
COSMIC:
COSM3753571 (not active)
MyVariant.info:
GRCh38 chr13:g.109782884C>T
GRCh37 chr13:g.110435231C>T
Revel Score:
ENST00000375856 (MANE Select) 0.052
gnomAD v2:
13:110435231 C / T
gnomAD v3:
13:109782884 C / T
gnomAD v4:
chr13-109782884-C-T
Joint Max Group AF 0.43859615 (AMR)
Genomes Max Group AF 0.39581783 (AMR)
Exomes Max Group AF 0.45388315 (AMR)
ClinVar RCV:
RCV000009368
RCV003974814
ClinVar Variation:
8820
dbSNP:
1805097
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.109782884C>T , CM000675.2:g.109782884C>T GRCh38
NC_000013.10:g.110435231C>T , CM000675.1:g.110435231C>T GRCh37
NC_000013.9:g.109233232C>T NCBI36
NG_008154.1:g.8684G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375856.5:c.3170G>A MANE Select ENSP00000365016.3:p.Gly1057Asp
ENST00000375856.4:c.3170G>A ENSP00000365016.3:p.Gly1057Asp
NM_003749.2:c.3170G>A NP_003740.2:p.Gly1057Asp
NM_003749.3:c.3170G>A MANE Select NP_003740.2:p.Gly1057Asp
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