Canonical Allele Identifier: CA539841244
Gene: IHH HGNC NCBI

Linked Data

dbSNP Id: rs1489807687
gnomAD v2: 2-219925200-C-A
gnomAD v4: 2-219060478-C-A
MyVariant Identifiers: chr2:g.219925200C>A (hg19) chr2:g.219060478C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060478C>A , CM000664.2:g.219060478C>A GRCh38
NC_000002.11:g.219925200C>A , CM000664.1:g.219925200C>A GRCh37
NC_000002.10:g.219633444C>A NCBI36
NG_016741.1:g.5039G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.-11G>T MANE Select ENSP00000295731.5:n.-11G>T
NM_002181.3:c.-11G>T NP_002172.2:n.-11G>T
NM_002181.4:c.-11G>T MANE Select NP_002172.2:n.-11G>T
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