Canonical Allele Identifier: CA119946
Gene: IRS2 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.109784115G>C
GRCh37 chr13:g.110436462G>C
Revel Score:
ENST00000375856 (MANE Select) 0.027
gnomAD v2:
13:110436462 G / C
gnomAD v3:
13:109784115 G / C
gnomAD v4:
chr13-109784115-G-C
Joint Max Group AF 0.00008691 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00008958 (NFE)
ClinVar RCV:
RCV000009369
ClinVar Variation:
8821
dbSNP:
137852740
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.109784115G>C , CM000675.2:g.109784115G>C GRCh38
NC_000013.10:g.110436462G>C , CM000675.1:g.110436462G>C GRCh37
NC_000013.9:g.109234463G>C NCBI36
NG_008154.1:g.7453C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375856.5:c.1939C>G MANE Select ENSP00000365016.3:p.Leu647Val
ENST00000375856.4:c.1939C>G ENSP00000365016.3:p.Leu647Val
NM_003749.2:c.1939C>G NP_003740.2:p.Leu647Val
NM_003749.3:c.1939C>G MANE Select NP_003740.2:p.Leu647Val
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