Canonical Allele Identifier: CA764946564
Gene: IHH HGNC NCBI

Linked Data

dbSNP Id: rs1461464898
gnomAD v3: 2-219060484-G-A
gnomAD v4: 2-219060484-G-A
MyVariant Identifiers: chr2:g.219925206G>A (hg19) chr2:g.219060484G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060484G>A , CM000664.2:g.219060484G>A GRCh38
NC_000002.11:g.219925206G>A , CM000664.1:g.219925206G>A GRCh37
NC_000002.10:g.219633450G>A NCBI36
NG_016741.1:g.5033C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.-17C>T MANE Select ENSP00000295731.5:n.-17C>T
NM_002181.3:c.-17C>T NP_002172.2:n.-17C>T
NM_002181.4:c.-17C>T MANE Select NP_002172.2:n.-17C>T
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