Canonical Allele Identifier: CA350637357

Gene: IHH

Linked Data

• gnomAD v4: 2-219060335-C-G
• MyVariant Identifiers: chr2:g.219925057C>G (hg19) ; chr2:g.219060335C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219060335C>G , CM000664.2:g.219060335C>G	GRCh38
NC_000002.11:g.219925057C>G , CM000664.1:g.219925057C>G	GRCh37
NC_000002.10:g.219633301C>G	NCBI36
NG_016741.1:g.5182G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295731.7:c.133G>C MANE Select	ENSP00000295731.5:p.Val45Leu
ENST00000295731.6:c.133G>C	ENSP00000295731.5:p.Val45Leu
NM_002181.3:c.133G>C	NP_002172.2:p.Val45Leu
NM_002181.4:c.133G>C MANE Select	NP_002172.2:p.Val45Leu