Canonical Allele Identifier: CA2116595

Gene: IHH

Linked Data

• ClinVar Variation Id: 334437
• ClinVar RCV Id: RCV000319004 ; RCV000964722 ; RCV002480191
• dbSNP Id: rs61747697
• ExAC: 2:219920346 G / A
• gnomAD v2: 2-219920346-G-A
• gnomAD v3: 2-219055624-G-A
• gnomAD v4: 2-219055624-G-A
• MyVariant Identifiers: chr2:g.219920346G>A (hg19) ; chr2:g.219055624G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219055624G>A , CM000664.2:g.219055624G>A	GRCh38
NC_000002.11:g.219920346G>A , CM000664.1:g.219920346G>A	GRCh37
NC_000002.10:g.219628590G>A	NCBI36
NG_016741.1:g.9893C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295731.7:c.819C>T MANE Select	ENSP00000295731.5:p.Pro273=
ENST00000295731.6:c.819C>T	ENSP00000295731.5:p.Pro273=
NM_002181.3:c.819C>T	NP_002172.2:p.Pro273=
NM_002181.4:c.819C>T MANE Select	NP_002172.2:p.Pro273=