Canonical Allele Identifier: CA764946662
Gene: IHH HGNC NCBI

Linked Data

dbSNP Id: rs1329022712
gnomAD v4: 2-219060545-G-A
MyVariant Identifiers: chr2:g.219925267G>A (hg19) chr2:g.219060545G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060545G>A , CM000664.2:g.219060545G>A GRCh38
NC_000002.11:g.219925267G>A , CM000664.1:g.219925267G>A GRCh37
NC_000002.10:g.219633511G>A NCBI36
NG_016741.1:g.4972C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.-78C>T MANE Select ENSP00000295731.5:n.-78C>T
NM_002181.4:c.-78C>T MANE Select NP_002172.2:n.-78C>T
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