Canonical Allele Identifier: CA65951454
Gene: IHH HGNC NCBI

Linked Data

ClinVar Variation Id: 1206844
ClinVar RCV Id: RCV001574627
dbSNP Id: rs528187901
gnomAD v2: 2-219925270-G-T
gnomAD v3: 2-219060548-G-T
gnomAD v4: 2-219060548-G-T
MyVariant Identifiers: chr2:g.219925270G>T (hg19) chr2:g.219060548G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060548G>T , CM000664.2:g.219060548G>T GRCh38
NC_000002.11:g.219925270G>T , CM000664.1:g.219925270G>T GRCh37
NC_000002.10:g.219633514G>T NCBI36
NG_016741.1:g.4969C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.-81C>A MANE Select ENSP00000295731.5:n.-81C>A
NM_002181.4:c.-81C>A MANE Select NP_002172.2:n.-81C>A
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