Canonical Allele Identifier: CA431420362
Gene: IHH HGNC NCBI

Linked Data

dbSNP Id: rs1948870042
MyVariant Identifiers: chr2:g.219925073T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060351T>C , CM000664.2:g.219060351T>C GRCh38
NC_000002.11:g.219925073T>C , CM000664.1:g.219925073T>C GRCh37
NC_000002.10:g.219633317T>C NCBI36
NG_016741.1:g.5166A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.117A>G MANE Select ENSP00000295731.5:p.Arg39=
ENST00000295731.6:c.117A>G ENSP00000295731.5:p.Arg39=
NM_002181.3:c.117A>G NP_002172.2:p.Arg39=
NM_002181.4:c.117A>G MANE Select NP_002172.2:p.Arg39=