Canonical Allele Identifier: CA148793

Gene: IMPG2

Linked Data

• ClinVar Variation Id: 95749
• ClinVar RCV Id: RCV000081792 ; RCV000401059 ; RCV000898540
• dbSNP Id: rs116450347
• ExAC: 3:100951820 G / A
• gnomAD v2: 3-100951820-G-A
• gnomAD v3: 3-101232976-G-A
• gnomAD v4: 3-101232976-G-A
• MyVariant Identifiers: chr3:g.100951820G>A (hg19) ; chr3:g.101232976G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101232976G>A , CM000665.2:g.101232976G>A	GRCh38
NC_000003.11:g.100951820G>A , CM000665.1:g.100951820G>A	GRCh37
NC_000003.10:g.102434510G>A	NCBI36
NG_028284.1:g.92600C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000193391.8:c.3038C>T MANE Select	ENSP00000193391.6:p.Pro1013Leu
ENST00000193391.7:c.3038C>T	ENSP00000193391.6:p.Pro1013Leu
NM_016247.3:c.3038C>T	NP_057331.2:p.Pro1013Leu
XM_011512871.1:c.2744C>T	XP_011511173.1:p.Pro915Leu
XM_011512872.1:c.2627C>T	XP_011511174.1:p.Pro876Leu
NM_016247.4:c.3038C>T MANE Select	NP_057331.2:p.Pro1013Leu