Canonical Allele Identifier: CA236192

Gene: IMPG2

Linked Data

• ClinVar Variation Id: 191179
• ClinVar RCV Id: RCV000171365 ; RCV000987301 ; RCV000958677
• dbSNP Id: rs111784356
• ExAC: 3:100948418 G / A
• gnomAD v2: 3-100948418-G-A
• gnomAD v3: 3-101229574-G-A
• gnomAD v4: 3-101229574-G-A
• MyVariant Identifiers: chr3:g.100948418G>A (hg19) ; chr3:g.101229574G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101229574G>A , CM000665.2:g.101229574G>A	GRCh38
NC_000003.11:g.100948418G>A , CM000665.1:g.100948418G>A	GRCh37
NC_000003.10:g.102431108G>A	NCBI36
NG_028284.1:g.96002C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000193391.8:c.3439C>T MANE Select	ENSP00000193391.6:p.Pro1147Ser
ENST00000193391.7:c.3439C>T	ENSP00000193391.6:p.Pro1147Ser
NM_016247.3:c.3439C>T	NP_057331.2:p.Pro1147Ser
XM_011512871.1:c.3145C>T	XP_011511173.1:p.Pro1049Ser
XM_011512872.1:c.3028C>T	XP_011511174.1:p.Pro1010Ser
NM_016247.4:c.3439C>T MANE Select	NP_057331.2:p.Pro1147Ser