Canonical Allele Identifier: CA350636710
Gene: IHH HGNC NCBI

Linked Data

ClinVar Variation Id: 2086589
ClinVar RCV Id: RCV003015524
dbSNP Id: rs1948868327
gnomAD v3: 2-219060187-T-C
gnomAD v4: 2-219060187-T-C
MyVariant Identifiers: chr2:g.219924909T>C (hg19) chr2:g.219060187T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060187T>C , CM000664.2:g.219060187T>C GRCh38
NC_000002.11:g.219924909T>C , CM000664.1:g.219924909T>C GRCh37
NC_000002.10:g.219633153T>C NCBI36
NG_016741.1:g.5330A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000295731.7:c.281A>G MANE Select ENSP00000295731.5:p.Glu94Gly
ENST00000295731.6:c.281A>G ENSP00000295731.5:p.Glu94Gly
NM_002181.3:c.281A>G NP_002172.2:p.Glu94Gly
NM_002181.4:c.281A>G MANE Select NP_002172.2:p.Glu94Gly
Search 100 bp 5'
Search 100 bp 3'