Canonical Allele Identifier: CA350637142
Gene: IHH HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219925018C>G (hg19) chr2:g.219060296C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060296C>G , CM000664.2:g.219060296C>G GRCh38
NC_000002.11:g.219925018C>G , CM000664.1:g.219925018C>G GRCh37
NC_000002.10:g.219633262C>G NCBI36
NG_016741.1:g.5221G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.172G>C MANE Select ENSP00000295731.5:p.Glu58Gln
ENST00000295731.6:c.172G>C ENSP00000295731.5:p.Glu58Gln
NM_002181.3:c.172G>C NP_002172.2:p.Glu58Gln
NM_002181.4:c.172G>C MANE Select NP_002172.2:p.Glu58Gln
Search 100 bp 5'
Search 100 bp 3'