Canonical Allele Identifier: CA2518734

Gene: IMPG2

Linked Data

• ClinVar Variation Id: 342335
• ClinVar RCV Id: RCV000288559 ; RCV002057814
• dbSNP Id: rs201519517
• ExAC: 3:100948354 G / C
• gnomAD v2: 3-100948354-G-C
• gnomAD v3: 3-101229510-G-C
• gnomAD v4: 3-101229510-G-C
• MyVariant Identifiers: chr3:g.100948354G>C (hg19) ; chr3:g.101229510G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101229510G>C , CM000665.2:g.101229510G>C	GRCh38
NC_000003.11:g.100948354G>C , CM000665.1:g.100948354G>C	GRCh37
NC_000003.10:g.102431044G>C	NCBI36
NG_028284.1:g.96066C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000193391.8:c.3503C>G MANE Select	ENSP00000193391.6:p.Ala1168Gly
ENST00000193391.7:c.3503C>G	ENSP00000193391.6:p.Ala1168Gly
NM_016247.3:c.3503C>G	NP_057331.2:p.Ala1168Gly
XM_011512871.1:c.3209C>G	XP_011511173.1:p.Ala1070Gly
XM_011512872.1:c.3092C>G	XP_011511174.1:p.Ala1031Gly
NM_016247.4:c.3503C>G MANE Select	NP_057331.2:p.Ala1168Gly