Canonical Allele Identifier: CA174621

Gene: IMPG2

Linked Data

• ClinVar Variation Id: 161700
• ClinVar RCV Id: RCV000149236 ; RCV002514862
• dbSNP Id: rs193920760
• ExAC: 3:100964924 G / A
• gnomAD v2: 3-100964924-G-A
• gnomAD v4: 3-101246080-G-A
• COSMIC: COSM1178647
• MyVariant Identifiers: chr3:g.100964924G>A (hg19) ; chr3:g.101246080G>A (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101246080G>A , CM000665.2:g.101246080G>A	GRCh38
NC_000003.11:g.100964924G>A , CM000665.1:g.100964924G>A	GRCh37
NC_000003.10:g.102447614G>A	NCBI36
NG_028284.1:g.79496C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000193391.8:c.1265C>T MANE Select	ENSP00000193391.6:p.Pro422Leu
ENST00000193391.7:c.1265C>T	ENSP00000193391.6:p.Pro422Leu
NM_016247.3:c.1265C>T	NP_057331.2:p.Pro422Leu
XM_011512871.1:c.971C>T	XP_011511173.1:p.Pro324Leu
XM_011512872.1:c.854C>T	XP_011511174.1:p.Pro285Leu
NM_016247.4:c.1265C>T MANE Select	NP_057331.2:p.Pro422Leu