Canonical Allele Identifier: CA350637807
Gene: IHH HGNC NCBI

Linked Data

dbSNP Id: rs1343928445
gnomAD v2: 2-219925180-C-A
gnomAD v4: 2-219060458-C-A
MyVariant Identifiers: chr2:g.219925180C>A (hg19) chr2:g.219060458C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219060458C>A , CM000664.2:g.219060458C>A GRCh38
NC_000002.11:g.219925180C>A , CM000664.1:g.219925180C>A GRCh37
NC_000002.10:g.219633424C>A NCBI36
NG_016741.1:g.5059G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295731.7:c.10G>T MANE Select ENSP00000295731.5:p.Ala4Ser
ENST00000295731.6:c.10G>T ENSP00000295731.5:p.Ala4Ser
NM_002181.3:c.10G>T NP_002172.2:p.Ala4Ser
NM_002181.4:c.10G>T MANE Select NP_002172.2:p.Ala4Ser
Search 100 bp 5'
Search 100 bp 3'