Canonical Allele Identifier: CA2519255

Gene: IMPG2

Linked Data

• ClinVar Variation Id: 342353
• ClinVar RCV Id: RCV000278383 ; RCV000912285 ; RCV003888821 ; RCV003950195
• dbSNP Id: rs139255481
• ExAC: 3:100972610 C / T
• gnomAD v2: 3-100972610-C-T
• gnomAD v3: 3-101253766-C-T
• gnomAD v4: 3-101253766-C-T
• COSMIC: COSM4111849
• MyVariant Identifiers: chr3:g.100972610C>T (hg19) ; chr3:g.101253766C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101253766C>T , CM000665.2:g.101253766C>T	GRCh38
NC_000003.11:g.100972610C>T , CM000665.1:g.100972610C>T	GRCh37
NC_000003.10:g.102455300C>T	NCBI36
NG_028284.1:g.71810G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000193391.8:c.1169G>A MANE Select	ENSP00000193391.6:p.Arg390His
ENST00000193391.7:c.1169G>A	ENSP00000193391.6:p.Arg390His
NM_016247.3:c.1169G>A	NP_057331.2:p.Arg390His
XM_011512871.1:c.875G>A	XP_011511173.1:p.Arg292His
XM_011512872.1:c.758G>A	XP_011511174.1:p.Arg253His
NM_016247.4:c.1169G>A MANE Select	NP_057331.2:p.Arg390His