Canonical Allele Identifier: CA431419767
Gene: IHH HGNC NCBI

Linked Data

dbSNP Id: rs763763980
gnomAD v4: 2-219060441-T-G
MyVariant Identifiers: chr2:g.219925163T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060441T>G , CM000664.2:g.219060441T>G GRCh38
NC_000002.11:g.219925163T>G , CM000664.1:g.219925163T>G GRCh37
NC_000002.10:g.219633407T>G NCBI36
NG_016741.1:g.5076A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.27A>C MANE Select ENSP00000295731.5:p.Arg9=
ENST00000295731.6:c.27A>C ENSP00000295731.5:p.Arg9=
NM_002181.3:c.27A>C NP_002172.2:p.Arg9=
NM_002181.4:c.27A>C MANE Select NP_002172.2:p.Arg9=
Search 100 bp 5'
Search 100 bp 3'