Canonical Allele Identifier: CA2519176

Gene: IMPG2

Linked Data

• ClinVar Variation Id: 342350
• ClinVar RCV Id: RCV000389498 ; RCV000980050 ; RCV003972442 ; RCV003888820
• dbSNP Id: rs201905772
• ExAC: 3:100964807 G / C
• gnomAD v2: 3-100964807-G-C
• gnomAD v3: 3-101245963-G-C
• gnomAD v4: 3-101245963-G-C
• MyVariant Identifiers: chr3:g.100964807G>C (hg19) ; chr3:g.101245963G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101245963G>C , CM000665.2:g.101245963G>C	GRCh38
NC_000003.11:g.100964807G>C , CM000665.1:g.100964807G>C	GRCh37
NC_000003.10:g.102447497G>C	NCBI36
NG_028284.1:g.79613C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000193391.8:c.1382C>G MANE Select	ENSP00000193391.6:p.Thr461Arg
ENST00000193391.7:c.1382C>G	ENSP00000193391.6:p.Thr461Arg
NM_016247.3:c.1382C>G	NP_057331.2:p.Thr461Arg
XM_011512871.1:c.1088C>G	XP_011511173.1:p.Thr363Arg
XM_011512872.1:c.971C>G	XP_011511174.1:p.Thr324Arg
NM_016247.4:c.1382C>G MANE Select	NP_057331.2:p.Thr461Arg