Canonical Allele Identifier: CA2518978

Gene: IMPG2

Linked Data

• ClinVar Variation Id: 342345
• ClinVar RCV Id: RCV000302368 ; RCV001058248 ; RCV003888819
• dbSNP Id: rs76048775
• ExAC: 3:100962744 A / C
• gnomAD v2: 3-100962744-A-C
• gnomAD v3: 3-101243900-A-C
• gnomAD v4: 3-101243900-A-C
• MyVariant Identifiers: chr3:g.100962744A>C (hg19) ; chr3:g.101243900A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101243900A>C , CM000665.2:g.101243900A>C	GRCh38
NC_000003.11:g.100962744A>C , CM000665.1:g.100962744A>C	GRCh37
NC_000003.10:g.102445434A>C	NCBI36
NG_028284.1:g.81676T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000193391.8:c.2431T>G MANE Select	ENSP00000193391.6:p.Ser811Ala
ENST00000193391.7:c.2431T>G	ENSP00000193391.6:p.Ser811Ala
NM_016247.3:c.2431T>G	NP_057331.2:p.Ser811Ala
XM_011512871.1:c.2137T>G	XP_011511173.1:p.Ser713Ala
XM_011512872.1:c.2020T>G	XP_011511174.1:p.Ser674Ala
NM_016247.4:c.2431T>G MANE Select	NP_057331.2:p.Ser811Ala