Canonical Allele Identifier: CA539841254

Gene: IHH

Linked Data

• dbSNP Id: rs1400960561
• gnomAD v2: 2-219925252-G-A
• gnomAD v3: 2-219060530-G-A
• gnomAD v4: 2-219060530-G-A
• MyVariant Identifiers: chr2:g.219925252G>A (hg19) ; chr2:g.219060530G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219060530G>A , CM000664.2:g.219060530G>A	GRCh38
NC_000002.11:g.219925252G>A , CM000664.1:g.219925252G>A	GRCh37
NC_000002.10:g.219633496G>A	NCBI36
NG_016741.1:g.4987C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295731.7:c.-63C>T MANE Select	ENSP00000295731.5:n.-63C>T
NM_002181.4:c.-63C>T MANE Select	NP_002172.2:n.-63C>T