Canonical Allele Identifier: CA350636653
Gene: IHH HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.219060170C>G
GRCh37 chr2:g.219924892C>G
Revel Score:
ENST00000295731 (MANE Select) 0.949
ClinVar RCV:
RCV005127916
ClinVar Variation:
3649009
dbSNP:
121917855
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060170C>G , CM000664.2:g.219060170C>G GRCh38
NC_000002.11:g.219924892C>G , CM000664.1:g.219924892C>G GRCh37
NC_000002.10:g.219633136C>G NCBI36
NG_016741.1:g.5347G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.298G>C MANE Select ENSP00000295731.5:p.Asp100His
ENST00000295731.6:c.298G>C ENSP00000295731.5:p.Asp100His
NM_002181.3:c.298G>C NP_002172.2:p.Asp100His
NM_002181.4:c.298G>C MANE Select NP_002172.2:p.Asp100His
Search 100 bp 5'
Search 100 bp 3'