Canonical Allele Identifier: CA2518888

Gene: IMPG2

Linked Data

• ClinVar Variation Id: 342340
• ClinVar RCV Id: RCV000280467 ; RCV002057815
• dbSNP Id: rs371471872
• ExAC: 3:100961707 T / C
• gnomAD v2: 3-100961707-T-C
• gnomAD v4: 3-101242863-T-C
• MyVariant Identifiers: chr3:g.100961707T>C (hg19) ; chr3:g.101242863T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101242863T>C , CM000665.2:g.101242863T>C	GRCh38
NC_000003.11:g.100961707T>C , CM000665.1:g.100961707T>C	GRCh37
NC_000003.10:g.102444397T>C	NCBI36
NG_028284.1:g.82713A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000193391.8:c.2847A>G MANE Select	ENSP00000193391.6:p.Leu949=
ENST00000193391.7:c.2847A>G	ENSP00000193391.6:p.Leu949=
NM_016247.3:c.2847A>G	NP_057331.2:p.Leu949=
XM_011512871.1:c.2553A>G	XP_011511173.1:p.Leu851=
XM_011512872.1:c.2436A>G	XP_011511174.1:p.Leu812=
NM_016247.4:c.2847A>G MANE Select	NP_057331.2:p.Leu949=