Canonical Allele Identifier: CA2143230
Gene: IRS1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.226796916G>A
GRCh37 chr2:g.227661632G>A
Revel Score:
ENST00000305123 (MANE Select) 0.142
gnomAD v2:
2:227661632 G / A
gnomAD v3:
2:226796916 G / A
gnomAD v4:
chr2-226796916-G-A
Joint Max Group AF 0.0000194 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001889 (NFE)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000305123.6:c.1823C>T MANE Select ENSP00000304895.4:p.Thr608Met
ENST00000305123.5:c.1823C>T ENSP00000304895.4:p.Thr608Met
NM_005544.2:c.1823C>T NP_005535.1:p.Thr608Met
NM_005544.3:c.1823C>T MANE Select NP_005535.1:p.Thr608Met
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