Canonical Allele Identifier: CA2518823

Gene: IMPG2

Linked Data

• ClinVar Variation Id: 342339
• ClinVar RCV Id: RCV000348283 ; RCV001199484 ; RCV001245407
• dbSNP Id: rs770293441
• ExAC: 3:100951716 G / A
• gnomAD v2: 3-100951716-G-A
• gnomAD v3: 3-101232872-G-A
• gnomAD v4: 3-101232872-G-A
• COSMIC: COSM4616874
• MyVariant Identifiers: chr3:g.100951716G>A (hg19) ; chr3:g.101232872G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101232872G>A , CM000665.2:g.101232872G>A	GRCh38
NC_000003.11:g.100951716G>A , CM000665.1:g.100951716G>A	GRCh37
NC_000003.10:g.102434406G>A	NCBI36
NG_028284.1:g.92704C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000193391.8:c.3142C>T MANE Select	ENSP00000193391.6:p.Arg1048Trp
ENST00000193391.7:c.3142C>T	ENSP00000193391.6:p.Arg1048Trp
NM_016247.3:c.3142C>T	NP_057331.2:p.Arg1048Trp
XM_011512871.1:c.2848C>T	XP_011511173.1:p.Arg950Trp
XM_011512872.1:c.2731C>T	XP_011511174.1:p.Arg911Trp
NM_016247.4:c.3142C>T MANE Select	NP_057331.2:p.Arg1048Trp