Canonical Allele Identifier: CA2116761
Gene: IHH HGNC NCBI

Linked Data

ClinVar Variation Id: 3006505
ClinVar RCV Id: RCV003866656
dbSNP Id: rs765052865
ExAC: 2:219925026 T / C
gnomAD v2: 2-219925026-T-C
gnomAD v3: 2-219060304-T-C
gnomAD v4: 2-219060304-T-C
MyVariant Identifiers: chr2:g.219925026T>C (hg19) chr2:g.219060304T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060304T>C , CM000664.2:g.219060304T>C GRCh38
NC_000002.11:g.219925026T>C , CM000664.1:g.219925026T>C GRCh37
NC_000002.10:g.219633270T>C NCBI36
NG_016741.1:g.5213A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.164A>G MANE Select ENSP00000295731.5:p.Asn55Ser
ENST00000295731.6:c.164A>G ENSP00000295731.5:p.Asn55Ser
NM_002181.3:c.164A>G NP_002172.2:p.Asn55Ser
NM_002181.4:c.164A>G MANE Select NP_002172.2:p.Asn55Ser
Search 100 bp 5'
Search 100 bp 3'