Canonical Allele Identifier: CA350637679
Gene: IHH HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219925140A>C (hg19) chr2:g.219060418A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060418A>C , CM000664.2:g.219060418A>C GRCh38
NC_000002.11:g.219925140A>C , CM000664.1:g.219925140A>C GRCh37
NC_000002.10:g.219633384A>C NCBI36
NG_016741.1:g.5099T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.50T>G MANE Select ENSP00000295731.5:p.Leu17Trp
ENST00000295731.6:c.50T>G ENSP00000295731.5:p.Leu17Trp
NM_002181.3:c.50T>G NP_002172.2:p.Leu17Trp
NM_002181.4:c.50T>G MANE Select NP_002172.2:p.Leu17Trp
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