Canonical Allele Identifier: CA431419753
Gene: IHH HGNC NCBI

Linked Data

gnomAD v4: 2-219060438-C-A
MyVariant Identifiers: chr2:g.219925160C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060438C>A , CM000664.2:g.219060438C>A GRCh38
NC_000002.11:g.219925160C>A , CM000664.1:g.219925160C>A GRCh37
NC_000002.10:g.219633404C>A NCBI36
NG_016741.1:g.5079G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.30G>T MANE Select ENSP00000295731.5:p.Leu10=
ENST00000295731.6:c.30G>T ENSP00000295731.5:p.Leu10=
NM_002181.3:c.30G>T NP_002172.2:p.Leu10=
NM_002181.4:c.30G>T MANE Select NP_002172.2:p.Leu10=
Search 100 bp 5'
Search 100 bp 3'