Canonical Allele Identifier: CA2518898

Gene: IMPG2

Linked Data

• ClinVar Variation Id: 342341
• ClinVar RCV Id: RCV000337895 ; RCV001471832
• dbSNP Id: rs376452358
• ExAC: 3:100961765 A / C
• gnomAD v2: 3-100961765-A-C
• gnomAD v3: 3-101242921-A-C
• gnomAD v4: 3-101242921-A-C
• MyVariant Identifiers: chr3:g.100961765A>C (hg19) ; chr3:g.101242921A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101242921A>C , CM000665.2:g.101242921A>C	GRCh38
NC_000003.11:g.100961765A>C , CM000665.1:g.100961765A>C	GRCh37
NC_000003.10:g.102444455A>C	NCBI36
NG_028284.1:g.82655T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000193391.8:c.2803-14T>G MANE Select	ENSP00000193391.6:n.2803-14T>G
ENST00000193391.7:c.2803-14T>G	ENSP00000193391.6:n.2803-14T>G
NM_016247.3:c.2803-14T>G	NP_057331.2:n.2803-14T>G
XM_011512871.1:c.2509-14T>G	XP_011511173.1:n.2509-14T>G
XM_011512872.1:c.2392-14T>G	XP_011511174.1:n.2392-14T>G
NM_016247.4:c.2803-14T>G MANE Select	NP_057331.2:n.2803-14T>G