Canonical Allele Identifier: CA539841258
Gene: IHH HGNC NCBI

Linked Data

dbSNP Id: rs1326491425
gnomAD v2: 2-219925297-G-T
gnomAD v3: 2-219060575-G-T
gnomAD v4: 2-219060575-G-T
MyVariant Identifiers: chr2:g.219925297G>T (hg19) chr2:g.219060575G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060575G>T , CM000664.2:g.219060575G>T GRCh38
NC_000002.11:g.219925297G>T , CM000664.1:g.219925297G>T GRCh37
NC_000002.10:g.219633541G>T NCBI36
NG_016741.1:g.4942C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.-108C>A MANE Select ENSP00000295731.5:n.-108C>A
NM_002181.4:c.-108C>A MANE Select NP_002172.2:n.-108C>A
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