Canonical Allele Identifier: CA350637272
Gene: IHH HGNC NCBI

Linked Data

ClinVar Variation Id: 273383
ClinVar RCV Id: RCV000508633
dbSNP Id: rs1553540620
gnomAD v4: 2-219060317-G-T
MyVariant Identifiers: chr2:g.219925039G>T (hg19) chr2:g.219060317G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060317G>T , CM000664.2:g.219060317G>T GRCh38
NC_000002.11:g.219925039G>T , CM000664.1:g.219925039G>T GRCh37
NC_000002.10:g.219633283G>T NCBI36
NG_016741.1:g.5200C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.151C>A MANE Select ENSP00000295731.5:p.Gln51Lys
ENST00000295731.6:c.151C>A ENSP00000295731.5:p.Gln51Lys
NM_002181.3:c.151C>A NP_002172.2:p.Gln51Lys
NM_002181.4:c.151C>A MANE Select NP_002172.2:p.Gln51Lys
Search 100 bp 5'
Search 100 bp 3'