Canonical Allele Identifier: CA2519415

Gene: IMPG2

Linked Data

• ClinVar Variation Id: 493366
• ClinVar RCV Id: RCV000585474 ; RCV001199809
• dbSNP Id: rs775105637
• ExAC: 3:100994502 C / T
• gnomAD v2: 3-100994502-C-T
• gnomAD v4: 3-101275658-C-T
• MyVariant Identifiers: chr3:g.100994502C>T (hg19) ; chr3:g.101275658C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101275658C>T , CM000665.2:g.101275658C>T	GRCh38
NC_000003.11:g.100994502C>T , CM000665.1:g.100994502C>T	GRCh37
NC_000003.10:g.102477192C>T	NCBI36
NG_028284.1:g.49918G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000193391.8:c.666+5G>A MANE Select	ENSP00000193391.6:n.666+5G>A
ENST00000193391.7:c.666+5G>A	ENSP00000193391.6:n.666+5G>A
NM_016247.3:c.666+5G>A	NP_057331.2:n.666+5G>A
XM_011512871.1:c.372+5G>A	XP_011511173.1:n.372+5G>A
XM_011512872.1:c.255+5G>A	XP_011511174.1:n.255+5G>A
NM_016247.4:c.666+5G>A MANE Select	NP_057331.2:n.666+5G>A