Canonical Allele Identifier: CA2519576

Gene: IMPG2

Linked Data

• ClinVar Variation Id: 342359
• ClinVar RCV Id: RCV000308609 ; RCV001521271
• dbSNP Id: rs188916371
• ExAC: 3:101039160 C / G
• gnomAD v2: 3-101039160-C-G
• gnomAD v3: 3-101320316-C-G
• gnomAD v4: 3-101320316-C-G
• MyVariant Identifiers: chr3:g.101039160C>G (hg19) ; chr3:g.101320316C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101320316C>G , CM000665.2:g.101320316C>G	GRCh38
NC_000003.11:g.101039160C>G , CM000665.1:g.101039160C>G	GRCh37
NC_000003.10:g.102521850C>G	NCBI36
NG_028284.1:g.5260G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000193391.8:c.57G>C MANE Select	ENSP00000193391.6:p.Leu19=
ENST00000193391.7:c.57G>C	ENSP00000193391.6:p.Leu19=
NM_016247.3:c.57G>C	NP_057331.2:p.Leu19=
XM_011512872.1:c.-810G>C	XP_011511174.1:n.-810G>C
NM_016247.4:c.57G>C MANE Select	NP_057331.2:p.Leu19=