Canonical Allele Identifier: CA252815

Gene: IMPG2

Linked Data

• ClinVar Variation Id: 3549
• ClinVar RCV Id: RCV000003727 ; RCV001053603 ; RCV000787843 ; RCV003887852
• dbSNP Id: rs267606875
• ExAC: 3:100961664 G / A
• gnomAD v2: 3-100961664-G-A
• gnomAD v3: 3-101242820-G-A
• gnomAD v4: 3-101242820-G-A
• MyVariant Identifiers: chr3:g.100961664G>A (hg19) ; chr3:g.101242820G>A (hg38)
• PubMed: PMID:20673862

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101242820G>A , CM000665.2:g.101242820G>A	GRCh38
NC_000003.11:g.100961664G>A , CM000665.1:g.100961664G>A	GRCh37
NC_000003.10:g.102444354G>A	NCBI36
NG_028284.1:g.82756C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000193391.8:c.2890C>T MANE Select	ENSP00000193391.6:p.Arg964Ter
ENST00000193391.7:c.2890C>T	ENSP00000193391.6:p.Arg964Ter
NM_016247.3:c.2890C>T	NP_057331.2:p.Arg964Ter
XM_011512871.1:c.2596C>T	XP_011511173.1:p.Arg866Ter
XM_011512872.1:c.2479C>T	XP_011511174.1:p.Arg827Ter
NM_016247.4:c.2890C>T MANE Select	NP_057331.2:p.Arg964Ter