Canonical Allele Identifier: CA431419854
Gene: IHH HGNC NCBI

Linked Data

dbSNP Id: rs1367163452
gnomAD v2: 2-219924911-G-A
gnomAD v4: 2-219060189-G-A
MyVariant Identifiers: chr2:g.219924911G>A (hg19) chr2:g.219060189G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060189G>A , CM000664.2:g.219060189G>A GRCh38
NC_000002.11:g.219924911G>A , CM000664.1:g.219924911G>A GRCh37
NC_000002.10:g.219633155G>A NCBI36
NG_016741.1:g.5328C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000295731.7:c.279C>T MANE Select ENSP00000295731.5:p.Asp93=
ENST00000295731.6:c.279C>T ENSP00000295731.5:p.Asp93=
NM_002181.3:c.279C>T NP_002172.2:p.Asp93=
NM_002181.4:c.279C>T MANE Select NP_002172.2:p.Asp93=
Search 100 bp 5'
Search 100 bp 3'