Canonical Allele Identifier: CA350636859
Gene: IHH HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219924949G>T (hg19) chr2:g.219060227G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060227G>T , CM000664.2:g.219060227G>T GRCh38
NC_000002.11:g.219924949G>T , CM000664.1:g.219924949G>T GRCh37
NC_000002.10:g.219633193G>T NCBI36
NG_016741.1:g.5290C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.241C>A MANE Select ENSP00000295731.5:p.Leu81Ile
ENST00000295731.6:c.241C>A ENSP00000295731.5:p.Leu81Ile
NM_002181.3:c.241C>A NP_002172.2:p.Leu81Ile
NM_002181.4:c.241C>A MANE Select NP_002172.2:p.Leu81Ile
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