Canonical Allele Identifier: CA128621
Gene: IRS1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.226796916G>C
GRCh37 chr2:g.227661632G>C
Revel Score:
ENST00000305123 (MANE Select) 0.304
gnomAD v2:
2:227661632 G / C
gnomAD v3:
2:226796916 G / C
gnomAD v4:
chr2-226796916-G-C
Joint Max Group AF 0.00002598 (AFR)
Genomes Max Group AF 0.00001919 (AFR)
Exomes Max Group AF 0.00001046 (AFR)
ClinVar RCV:
RCV000022626
ClinVar Variation:
29762
dbSNP:
104893642
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.226796916G>C , CM000664.2:g.226796916G>C GRCh38
NC_000002.11:g.227661632G>C , CM000664.1:g.227661632G>C GRCh37
NC_000002.10:g.227369876G>C NCBI36
NG_015830.1:g.6875C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305123.6:c.1823C>G MANE Select ENSP00000304895.4:p.Thr608Arg
ENST00000305123.5:c.1823C>G ENSP00000304895.4:p.Thr608Arg
NM_005544.2:c.1823C>G NP_005535.1:p.Thr608Arg
NM_005544.3:c.1823C>G MANE Select NP_005535.1:p.Thr608Arg
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