Canonical Allele Identifier: CA350637205
Gene: IHH HGNC NCBI

Linked Data

ClinVar Variation Id: 1445393
ClinVar RCV Id: RCV001985018
dbSNP Id: rs2106310598
MyVariant Identifiers: chr2:g.219925030G>A (hg19) chr2:g.219060308G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060308G>A , CM000664.2:g.219060308G>A GRCh38
NC_000002.11:g.219925030G>A , CM000664.1:g.219925030G>A GRCh37
NC_000002.10:g.219633274G>A NCBI36
NG_016741.1:g.5209C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.160C>T MANE Select ENSP00000295731.5:p.Pro54Ser
ENST00000295731.6:c.160C>T ENSP00000295731.5:p.Pro54Ser
NM_002181.3:c.160C>T NP_002172.2:p.Pro54Ser
NM_002181.4:c.160C>T MANE Select NP_002172.2:p.Pro54Ser
Search 100 bp 5'
Search 100 bp 3'