Canonical Allele Identifier: CA252813

Gene: IMPG2

Linked Data

• ClinVar Variation Id: 3548
• ClinVar RCV Id: RCV000003726 ; RCV001207781 ; RCV003887851
• dbSNP Id: rs267606876
• ExAC: 3:100962459 G / A
• gnomAD v2: 3-100962459-G-A
• gnomAD v3: 3-101243615-G-A
• gnomAD v4: 3-101243615-G-A
• COSMIC: COSM2915326
• MyVariant Identifiers: chr3:g.100962459G>A (hg19) ; chr3:g.101243615G>A (hg38)
• PubMed: PMID:20673862

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101243615G>A , CM000665.2:g.101243615G>A	GRCh38
NC_000003.11:g.100962459G>A , CM000665.1:g.100962459G>A	GRCh37
NC_000003.10:g.102445149G>A	NCBI36
NG_028284.1:g.81961C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000193391.8:c.2716C>T MANE Select	ENSP00000193391.6:p.Arg906Ter
ENST00000193391.7:c.2716C>T	ENSP00000193391.6:p.Arg906Ter
NM_016247.3:c.2716C>T	NP_057331.2:p.Arg906Ter
XM_011512871.1:c.2422C>T	XP_011511173.1:p.Arg808Ter
XM_011512872.1:c.2305C>T	XP_011511174.1:p.Arg769Ter
NM_016247.4:c.2716C>T MANE Select	NP_057331.2:p.Arg906Ter