Canonical Allele Identifier: CA2519343

Gene: IMPG2

Linked Data

• ClinVar Variation Id: 342354
• ClinVar RCV Id: RCV000335959 ; RCV001406715
• dbSNP Id: rs767130055
• ExAC: 3:100988349 G / A
• gnomAD v2: 3-100988349-G-A
• gnomAD v3: 3-101269505-G-A
• gnomAD v4: 3-101269505-G-A
• MyVariant Identifiers: chr3:g.100988349G>A (hg19) ; chr3:g.101269505G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101269505G>A , CM000665.2:g.101269505G>A	GRCh38
NC_000003.11:g.100988349G>A , CM000665.1:g.100988349G>A	GRCh37
NC_000003.10:g.102471039G>A	NCBI36
NG_028284.1:g.56071C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000193391.8:c.887+10C>T MANE Select	ENSP00000193391.6:n.887+10C>T
ENST00000193391.7:c.887+10C>T	ENSP00000193391.6:n.887+10C>T
NM_016247.3:c.887+10C>T	NP_057331.2:n.887+10C>T
XM_011512871.1:c.593+10C>T	XP_011511173.1:n.593+10C>T
XM_011512872.1:c.476+10C>T	XP_011511174.1:n.476+10C>T
NM_016247.4:c.887+10C>T MANE Select	NP_057331.2:n.887+10C>T