Canonical Allele Identifier: CA431419685
Gene: IHH HGNC NCBI

Linked Data

gnomAD v4: 2-219060410-G-A
MyVariant Identifiers: chr2:g.219925132G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060410G>A , CM000664.2:g.219060410G>A GRCh38
NC_000002.11:g.219925132G>A , CM000664.1:g.219925132G>A GRCh37
NC_000002.10:g.219633376G>A NCBI36
NG_016741.1:g.5107C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.58C>T MANE Select ENSP00000295731.5:p.Leu20=
ENST00000295731.6:c.58C>T ENSP00000295731.5:p.Leu20=
NM_002181.3:c.58C>T NP_002172.2:p.Leu20=
NM_002181.4:c.58C>T MANE Select NP_002172.2:p.Leu20=
Search 100 bp 5'
Search 100 bp 3'