Canonical Allele Identifier: CA350637649
Gene: IHH HGNC NCBI

Linked Data

dbSNP Id: rs1194822379
gnomAD v2: 2-219925129-C-G
gnomAD v3: 2-219060407-C-G
gnomAD v4: 2-219060407-C-G
MyVariant Identifiers: chr2:g.219925129C>G (hg19) chr2:g.219060407C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060407C>G , CM000664.2:g.219060407C>G GRCh38
NC_000002.11:g.219925129C>G , CM000664.1:g.219925129C>G GRCh37
NC_000002.10:g.219633373C>G NCBI36
NG_016741.1:g.5110G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.61G>C MANE Select ENSP00000295731.5:p.Val21Leu
ENST00000295731.6:c.61G>C ENSP00000295731.5:p.Val21Leu
NM_002181.3:c.61G>C NP_002172.2:p.Val21Leu
NM_002181.4:c.61G>C MANE Select NP_002172.2:p.Val21Leu
Search 100 bp 5'
Search 100 bp 3'