Canonical Allele Identifier: CA7046460
Gene: IRS2 HGNC NCBI
gnomAD v2:
13:110436462 G / A
gnomAD v3:
13:109784115 G / A
gnomAD v4:
chr13-109784115-G-A
Joint Max Group AF 0.00015465 (AFR)
Genomes Max Group AF 0.00007871 (AFR)
Exomes Max Group AF 0.000184 (AFR)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000375856.5:c.1939C>T MANE Select ENSP00000365016.3:p.Leu647=
ENST00000375856.4:c.1939C>T ENSP00000365016.3:p.Leu647=
NM_003749.2:c.1939C>T NP_003740.2:p.Leu647=
NM_003749.3:c.1939C>T MANE Select NP_003740.2:p.Leu647=
Search 100 bp 5'
Search 100 bp 3'