Canonical Allele Identifier: CA350637386
Gene: IHH HGNC NCBI

Linked Data

dbSNP Id: rs1948869910
MyVariant Identifiers: chr2:g.219925063T>C (hg19) chr2:g.219060341T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060341T>C , CM000664.2:g.219060341T>C GRCh38
NC_000002.11:g.219925063T>C , CM000664.1:g.219925063T>C GRCh37
NC_000002.10:g.219633307T>C NCBI36
NG_016741.1:g.5176A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.127A>G MANE Select ENSP00000295731.5:p.Lys43Glu
ENST00000295731.6:c.127A>G ENSP00000295731.5:p.Lys43Glu
NM_002181.3:c.127A>G NP_002172.2:p.Lys43Glu
NM_002181.4:c.127A>G MANE Select NP_002172.2:p.Lys43Glu
Search 100 bp 5'
Search 100 bp 3'