Canonical Allele Identifier: CA960132804
Gene: IRS2 HGNC NCBI

Linked Data

dbSNP Id: rs1877352499
gnomAD v3: 13-109767114-C-T
gnomAD v4: 13-109767114-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.109767114C>T , CM000675.2:g.109767114C>T GRCh38
NC_000013.10:g.110419461C>T , CM000675.1:g.110419461C>T GRCh37
NC_000013.9:g.109217462C>T NCBI36
NG_008154.1:g.24454G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375856.5:c.4013-10806G>A MANE Select ENSP00000365016.3:n.4013-10806G>A
ENST00000375856.4:c.4013-10806G>A ENSP00000365016.3:n.4013-10806G>A
NM_003749.2:c.4013-10806G>A NP_003740.2:n.4013-10806G>A
NM_003749.3:c.4013-10806G>A MANE Select NP_003740.2:n.4013-10806G>A
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