Canonical Allele Identifier: CA350637303
Gene: IHH HGNC NCBI

Linked Data

dbSNP Id: rs1245966925
gnomAD v2: 2-219925044-T-C
gnomAD v4: 2-219060322-T-C
COSMIC: COSM5746052
MyVariant Identifiers: chr2:g.219925044T>C (hg19) chr2:g.219060322T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060322T>C , CM000664.2:g.219060322T>C GRCh38
NC_000002.11:g.219925044T>C , CM000664.1:g.219925044T>C GRCh37
NC_000002.10:g.219633288T>C NCBI36
NG_016741.1:g.5195A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.146A>G MANE Select ENSP00000295731.5:p.Tyr49Cys
ENST00000295731.6:c.146A>G ENSP00000295731.5:p.Tyr49Cys
NM_002181.3:c.146A>G NP_002172.2:p.Tyr49Cys
NM_002181.4:c.146A>G MANE Select NP_002172.2:p.Tyr49Cys
Search 100 bp 5'
Search 100 bp 3'