Canonical Allele Identifier: CA270121

Gene: IMPG2

Linked Data

• ClinVar Variation Id: 143151
• ClinVar RCV Id: RCV000132676 ; RCV000585301 ; RCV001074065 ; RCV001257827 ; RCV001270127
• dbSNP Id: rs199867882
• ExAC: 3:100949961 G / A
• gnomAD v2: 3-100949961-G-A
• gnomAD v3: 3-101231117-G-A
• gnomAD v4: 3-101231117-G-A
• COSMIC: COSM1035753
• MyVariant Identifiers: chr3:g.100949961G>A (hg19) ; chr3:g.101231117G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101231117G>A , CM000665.2:g.101231117G>A	GRCh38
NC_000003.11:g.100949961G>A , CM000665.1:g.100949961G>A	GRCh37
NC_000003.10:g.102432651G>A	NCBI36
NG_028284.1:g.94459C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000193391.8:c.3262C>T MANE Select	ENSP00000193391.6:p.Arg1088Ter
ENST00000193391.7:c.3262C>T	ENSP00000193391.6:p.Arg1088Ter
NM_016247.3:c.3262C>T	NP_057331.2:p.Arg1088Ter
XM_011512871.1:c.2968C>T	XP_011511173.1:p.Arg990Ter
XM_011512872.1:c.2851C>T	XP_011511174.1:p.Arg951Ter
NM_016247.4:c.3262C>T MANE Select	NP_057331.2:p.Arg1088Ter