Canonical Allele Identifier: CA65951324
Gene: IHH HGNC NCBI

Linked Data

dbSNP Id: rs940251856
gnomAD v4: 2-219060336-G-C
MyVariant Identifiers: chr2:g.219925058G>C (hg19) chr2:g.219060336G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060336G>C , CM000664.2:g.219060336G>C GRCh38
NC_000002.11:g.219925058G>C , CM000664.1:g.219925058G>C GRCh37
NC_000002.10:g.219633302G>C NCBI36
NG_016741.1:g.5181C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.132C>G MANE Select ENSP00000295731.5:p.Leu44=
ENST00000295731.6:c.132C>G ENSP00000295731.5:p.Leu44=
NM_002181.3:c.132C>G NP_002172.2:p.Leu44=
NM_002181.4:c.132C>G MANE Select NP_002172.2:p.Leu44=
Search 100 bp 5'
Search 100 bp 3'