Canonical Allele Identifier: CA431419708
Gene: IHH HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219925144G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060422G>A , CM000664.2:g.219060422G>A GRCh38
NC_000002.11:g.219925144G>A , CM000664.1:g.219925144G>A GRCh37
NC_000002.10:g.219633388G>A NCBI36
NG_016741.1:g.5095C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.46C>T MANE Select ENSP00000295731.5:p.Leu16=
ENST00000295731.6:c.46C>T ENSP00000295731.5:p.Leu16=
NM_002181.3:c.46C>T NP_002172.2:p.Leu16=
NM_002181.4:c.46C>T MANE Select NP_002172.2:p.Leu16=