Canonical Allele Identifier: CA2116788
Gene: IHH HGNC NCBI

Linked Data

dbSNP Id: rs756586045
ExAC: 2:219925195 G / C
gnomAD v2: 2-219925195-G-C
gnomAD v3: 2-219060473-G-C
gnomAD v4: 2-219060473-G-C
MyVariant Identifiers: chr2:g.219925195G>C (hg19) chr2:g.219060473G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060473G>C , CM000664.2:g.219060473G>C GRCh38
NC_000002.11:g.219925195G>C , CM000664.1:g.219925195G>C GRCh37
NC_000002.10:g.219633439G>C NCBI36
NG_016741.1:g.5044C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.-6C>G MANE Select ENSP00000295731.5:n.-6C>G
NM_002181.3:c.-6C>G NP_002172.2:n.-6C>G
NM_002181.4:c.-6C>G MANE Select NP_002172.2:n.-6C>G
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