Canonical Allele Identifier: CA431420351
Gene: IHH HGNC NCBI

Linked Data

dbSNP Id: rs2106310637
MyVariant Identifiers: chr2:g.219925067T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060345T>G , CM000664.2:g.219060345T>G GRCh38
NC_000002.11:g.219925067T>G , CM000664.1:g.219925067T>G GRCh37
NC_000002.10:g.219633311T>G NCBI36
NG_016741.1:g.5172A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.123A>C MANE Select ENSP00000295731.5:p.Pro41=
ENST00000295731.6:c.123A>C ENSP00000295731.5:p.Pro41=
NM_002181.3:c.123A>C NP_002172.2:p.Pro41=
NM_002181.4:c.123A>C MANE Select NP_002172.2:p.Pro41=