Canonical Allele Identifier: CA350637301
Gene: IHH HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219925044T>A (hg19) chr2:g.219060322T>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.146A>T MANE Select ENSP00000295731.5:p.Tyr49Phe
ENST00000295731.6:c.146A>T ENSP00000295731.5:p.Tyr49Phe
NM_002181.3:c.146A>T NP_002172.2:p.Tyr49Phe
NM_002181.4:c.146A>T MANE Select NP_002172.2:p.Tyr49Phe
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