Canonical Allele Identifier: CA764946585
Gene: IHH HGNC NCBI

Linked Data

dbSNP Id: rs1373414641
gnomAD v3: 2-219060500-T-C
gnomAD v4: 2-219060500-T-C
MyVariant Identifiers: chr2:g.219925222T>C (hg19) chr2:g.219060500T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060500T>C , CM000664.2:g.219060500T>C GRCh38
NC_000002.11:g.219925222T>C , CM000664.1:g.219925222T>C GRCh37
NC_000002.10:g.219633466T>C NCBI36
NG_016741.1:g.5017A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.-33A>G MANE Select ENSP00000295731.5:n.-33A>G
NM_002181.3:c.-33A>G NP_002172.2:n.-33A>G
NM_002181.4:c.-33A>G MANE Select NP_002172.2:n.-33A>G
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