Canonical Allele Identifier: CA431419697
Gene: IHH HGNC NCBI

Linked Data

dbSNP Id: rs1948870738
gnomAD v3: 2-219060416-G-A
gnomAD v4: 2-219060416-G-A
MyVariant Identifiers: chr2:g.219925138G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060416G>A , CM000664.2:g.219060416G>A GRCh38
NC_000002.11:g.219925138G>A , CM000664.1:g.219925138G>A GRCh37
NC_000002.10:g.219633382G>A NCBI36
NG_016741.1:g.5101C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.52C>T MANE Select ENSP00000295731.5:p.Leu18=
ENST00000295731.6:c.52C>T ENSP00000295731.5:p.Leu18=
NM_002181.3:c.52C>T NP_002172.2:p.Leu18=
NM_002181.4:c.52C>T MANE Select NP_002172.2:p.Leu18=
Search 100 bp 5'
Search 100 bp 3'