Canonical Allele Identifier: CA119976
Gene: IHH HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.219060170C>T
GRCh37 chr2:g.219924892C>T
Revel Score:
ENST00000295731 (MANE Select) 0.905
gnomAD v2:
2:219924892 C / T
gnomAD v4:
chr2-219060170-C-T
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.298G>A MANE Select ENSP00000295731.5:p.Asp100Asn
ENST00000295731.6:c.298G>A ENSP00000295731.5:p.Asp100Asn
NM_002181.3:c.298G>A NP_002172.2:p.Asp100Asn
NM_002181.4:c.298G>A MANE Select NP_002172.2:p.Asp100Asn
Search 100 bp 5'
Search 100 bp 3'