Canonical Allele Identifier: CA350634584
Gene: IHH HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.219057532G>A
GRCh37 chr2:g.219922254G>A
Revel Score:
ENST00000295731 (MANE Select) 0.947
ClinVar RCV:
RCV001582341
ClinVar Variation:
1217222
dbSNP:
1948842030
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219057532G>A , CM000664.2:g.219057532G>A GRCh38
NC_000002.11:g.219922254G>A , CM000664.1:g.219922254G>A GRCh37
NC_000002.10:g.219630498G>A NCBI36
NG_016741.1:g.7985C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.478C>T MANE Select ENSP00000295731.5:p.Arg160Cys
ENST00000295731.6:c.478C>T ENSP00000295731.5:p.Arg160Cys
NM_002181.3:c.478C>T NP_002172.2:p.Arg160Cys
NM_002181.4:c.478C>T MANE Select NP_002172.2:p.Arg160Cys
Search 100 bp 5'
Search 100 bp 3'