Canonical Allele Identifier: CA350636752
Gene: IHH HGNC NCBI

Linked Data

ClinVar Variation Id: 1224454
ClinVar RCV Id: RCV001597521
dbSNP Id: rs2106310472
MyVariant Identifiers: chr2:g.219924919A>G (hg19) chr2:g.219060197A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060197A>G , CM000664.2:g.219060197A>G GRCh38
NC_000002.11:g.219924919A>G , CM000664.1:g.219924919A>G GRCh37
NC_000002.10:g.219633163A>G NCBI36
NG_016741.1:g.5320T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295731.7:c.271T>C MANE Select ENSP00000295731.5:p.Phe91Leu
ENST00000295731.6:c.271T>C ENSP00000295731.5:p.Phe91Leu
NM_002181.3:c.271T>C NP_002172.2:p.Phe91Leu
NM_002181.4:c.271T>C MANE Select NP_002172.2:p.Phe91Leu
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