Canonical Allele Identifier: CA2518919

Gene: IMPG2

Linked Data

• ClinVar Variation Id: 342343
• ClinVar RCV Id: RCV000298993 ; RCV001438333
• dbSNP Id: rs764443272
• ExAC: 3:100962375 A / G
• gnomAD v2: 3-100962375-A-G
• gnomAD v3: 3-101243531-A-G
• gnomAD v4: 3-101243531-A-G
• MyVariant Identifiers: chr3:g.100962375A>G (hg19) ; chr3:g.101243531A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101243531A>G , CM000665.2:g.101243531A>G	GRCh38
NC_000003.11:g.100962375A>G , CM000665.1:g.100962375A>G	GRCh37
NC_000003.10:g.102445065A>G	NCBI36
NG_028284.1:g.82045T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000193391.8:c.2800T>C MANE Select	ENSP00000193391.6:p.Leu934=
ENST00000193391.7:c.2800T>C	ENSP00000193391.6:p.Leu934=
NM_016247.3:c.2800T>C	NP_057331.2:p.Leu934=
XM_011512871.1:c.2506T>C	XP_011511173.1:p.Leu836=
XM_011512872.1:c.2389T>C	XP_011511174.1:p.Leu797=
NM_016247.4:c.2800T>C MANE Select	NP_057331.2:p.Leu934=