Canonical Allele Identifier: CA350636736
Gene: IHH HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.219924915T>G (hg19) chr2:g.219060193T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060193T>G , CM000664.2:g.219060193T>G GRCh38
NC_000002.11:g.219924915T>G , CM000664.1:g.219924915T>G GRCh37
NC_000002.10:g.219633159T>G NCBI36
NG_016741.1:g.5324A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295731.7:c.275A>C MANE Select ENSP00000295731.5:p.Lys92Thr
ENST00000295731.6:c.275A>C ENSP00000295731.5:p.Lys92Thr
NM_002181.3:c.275A>C NP_002172.2:p.Lys92Thr
NM_002181.4:c.275A>C MANE Select NP_002172.2:p.Lys92Thr
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