Canonical Allele Identifier: CA350637794
Gene: IHH HGNC NCBI

Linked Data

gnomAD v4: 2-219060452-G-T
MyVariant Identifiers: chr2:g.219925174G>T (hg19) chr2:g.219060452G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060452G>T , CM000664.2:g.219060452G>T GRCh38
NC_000002.11:g.219925174G>T , CM000664.1:g.219925174G>T GRCh37
NC_000002.10:g.219633418G>T NCBI36
NG_016741.1:g.5065C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.16C>A MANE Select ENSP00000295731.5:p.Leu6Ile
ENST00000295731.6:c.16C>A ENSP00000295731.5:p.Leu6Ile
NM_002181.3:c.16C>A NP_002172.2:p.Leu6Ile
NM_002181.4:c.16C>A MANE Select NP_002172.2:p.Leu6Ile
Search 100 bp 5'
Search 100 bp 3'