Canonical Allele Identifier: CA431420310
Gene: IHH HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219925049G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060327G>T , CM000664.2:g.219060327G>T GRCh38
NC_000002.11:g.219925049G>T , CM000664.1:g.219925049G>T GRCh37
NC_000002.10:g.219633293G>T NCBI36
NG_016741.1:g.5190C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.141C>A MANE Select ENSP00000295731.5:p.Leu47=
ENST00000295731.6:c.141C>A ENSP00000295731.5:p.Leu47=
NM_002181.3:c.141C>A NP_002172.2:p.Leu47=
NM_002181.4:c.141C>A MANE Select NP_002172.2:p.Leu47=