Canonical Allele Identifier: CA2143106
Gene: IRS1 HGNC NCBI
COSMIC:
COSM442408 (not active)
MyVariant.info:
GRCh38 chr2:g.226796327T>C
GRCh37 chr2:g.227661043T>C
gnomAD v2:
2:227661043 T / C
gnomAD v3:
2:226796327 T / C
gnomAD v4:
chr2-226796327-T-C
Joint Max Group AF 0.41938834 (AFR)
Genomes Max Group AF 0.41074317 (AFR)
Exomes Max Group AF 0.42651221 (AFR)
dbSNP:
1801123
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.226796327T>C , CM000664.2:g.226796327T>C GRCh38
NC_000002.11:g.227661043T>C , CM000664.1:g.227661043T>C GRCh37
NC_000002.10:g.227369287T>C NCBI36
NG_015830.1:g.7464A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305123.6:c.2412A>G MANE Select ENSP00000304895.4:p.Ala804=
ENST00000305123.5:c.2412A>G ENSP00000304895.4:p.Ala804=
NM_005544.2:c.2412A>G NP_005535.1:p.Ala804=
NM_005544.3:c.2412A>G MANE Select NP_005535.1:p.Ala804=
Search 100 bp 5'
Search 100 bp 3'