Canonical Allele Identifier: CA2519497

Gene: IMPG2

Linked Data

• ClinVar Variation Id: 342357
• ClinVar RCV Id: RCV000339456 ; RCV001519735
• dbSNP Id: rs201277460
• ExAC: 3:101023169 G / A
• gnomAD v2: 3-101023169-G-A
• gnomAD v3: 3-101304325-G-A
• gnomAD v4: 3-101304325-G-A
• MyVariant Identifiers: chr3:g.101023169G>A (hg19) ; chr3:g.101304325G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101304325G>A , CM000665.2:g.101304325G>A	GRCh38
NC_000003.11:g.101023169G>A , CM000665.1:g.101023169G>A	GRCh37
NC_000003.10:g.102505859G>A	NCBI36
NG_028284.1:g.21251C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000193391.8:c.335-13C>T MANE Select	ENSP00000193391.6:n.335-13C>T
ENST00000193391.7:c.335-13C>T	ENSP00000193391.6:n.335-13C>T
NM_016247.3:c.335-13C>T	NP_057331.2:n.335-13C>T
XM_011512871.1:c.28C>T	XP_011511173.1:p.Leu10Phe
XM_011512872.1:c.-77-13C>T	XP_011511174.1:n.-77-13C>T
NM_016247.4:c.335-13C>T MANE Select	NP_057331.2:n.335-13C>T