Canonical Allele Identifier: CA431419782
Gene: IHH HGNC NCBI

Linked Data

ClinVar Variation Id: 2852595
ClinVar RCV Id: RCV003693651
gnomAD v4: 2-219060444-G-A
MyVariant Identifiers: chr2:g.219925166G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060444G>A , CM000664.2:g.219060444G>A GRCh38
NC_000002.11:g.219925166G>A , CM000664.1:g.219925166G>A GRCh37
NC_000002.10:g.219633410G>A NCBI36
NG_016741.1:g.5073C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.24C>T MANE Select ENSP00000295731.5:p.Pro8=
ENST00000295731.6:c.24C>T ENSP00000295731.5:p.Pro8=
NM_002181.3:c.24C>T NP_002172.2:p.Pro8=
NM_002181.4:c.24C>T MANE Select NP_002172.2:p.Pro8=
Search 100 bp 5'
Search 100 bp 3'