Canonical Allele Identifier: CA539841251

Gene: IHH

Linked Data

• dbSNP Id: rs1169593056
• gnomAD v2: 2-219925221-G-T
• gnomAD v4: 2-219060499-G-T
• MyVariant Identifiers: chr2:g.219925221G>T (hg19) ; chr2:g.219060499G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219060499G>T , CM000664.2:g.219060499G>T	GRCh38
NC_000002.11:g.219925221G>T , CM000664.1:g.219925221G>T	GRCh37
NC_000002.10:g.219633465G>T	NCBI36
NG_016741.1:g.5018C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295731.7:c.-32C>A MANE Select	ENSP00000295731.5:n.-32C>A
NM_002181.3:c.-32C>A	NP_002172.2:n.-32C>A
NM_002181.4:c.-32C>A MANE Select	NP_002172.2:n.-32C>A