Canonical Allele Identifier: CA2118534264
Gene: IRS2 HGNC NCBI
gnomAD v4:
chr13-109755559-T-G
Joint Max Group AF 0.00000753 (AFR)
Genomes Max Group AF 0.00000798 (AFR)
dbSNP:
2289046
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.109755559T>G , CM000675.2:g.109755559T>G GRCh38
NC_000013.10:g.110407906T>G , CM000675.1:g.110407906T>G GRCh37
NC_000013.9:g.109205907T>G NCBI36
NG_008154.1:g.36009A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375856.5:c.*745A>C MANE Select ENSP00000365016.3:n.*745A>C
ENST00000375856.4:c.*745A>C ENSP00000365016.3:n.*745A>C
NM_003749.2:c.*745A>C NP_003740.2:n.*745A>C
NM_003749.3:c.*745A>C MANE Select NP_003740.2:n.*745A>C
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