Canonical Allele Identifier: CA116343

Gene: IMPG2

Linked Data

• ClinVar Variation Id: 3550
• ClinVar RCV Id: RCV000003728 ; RCV001003057 ; RCV001053107
• dbSNP Id: rs201893545
• ExAC: 3:101023121 A / G
• gnomAD v2: 3-101023121-A-G
• gnomAD v3: 3-101304277-A-G
• gnomAD v4: 3-101304277-A-G
• MyVariant Identifiers: chr3:g.101023121A>G (hg19) ; chr3:g.101304277A>G (hg38)
• PubMed: PMID:20673862 ; PMID:25085631

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101304277A>G , CM000665.2:g.101304277A>G	GRCh38
NC_000003.11:g.101023121A>G , CM000665.1:g.101023121A>G	GRCh37
NC_000003.10:g.102505811A>G	NCBI36
NG_028284.1:g.21299T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000193391.8:c.370T>C MANE Select	ENSP00000193391.6:p.Phe124Leu
ENST00000193391.7:c.370T>C	ENSP00000193391.6:p.Phe124Leu
NM_016247.3:c.370T>C	NP_057331.2:p.Phe124Leu
XM_011512871.1:c.76T>C	XP_011511173.1:p.Phe26Leu
XM_011512872.1:c.-42T>C	XP_011511174.1:n.-42T>C
NM_016247.4:c.370T>C MANE Select	NP_057331.2:p.Phe124Leu