Canonical Allele Identifier: CA2519247

Gene: IMPG2

Linked Data

• ClinVar Variation Id: 342352
• ClinVar RCV Id: RCV000375226 ; RCV000949263 ; RCV001000670
• dbSNP Id: rs148056371
• ExAC: 3:100972556 G / A
• gnomAD v2: 3-100972556-G-A
• gnomAD v3: 3-101253712-G-A
• gnomAD v4: 3-101253712-G-A
• MyVariant Identifiers: chr3:g.100972556G>A (hg19) ; chr3:g.101253712G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101253712G>A , CM000665.2:g.101253712G>A	GRCh38
NC_000003.11:g.100972556G>A , CM000665.1:g.100972556G>A	GRCh37
NC_000003.10:g.102455246G>A	NCBI36
NG_028284.1:g.71864C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000193391.8:c.1223C>T MANE Select	ENSP00000193391.6:p.Thr408Met
ENST00000193391.7:c.1223C>T	ENSP00000193391.6:p.Thr408Met
NM_016247.3:c.1223C>T	NP_057331.2:p.Thr408Met
XM_011512871.1:c.929C>T	XP_011511173.1:p.Thr310Met
XM_011512872.1:c.812C>T	XP_011511174.1:p.Thr271Met
NM_016247.4:c.1223C>T MANE Select	NP_057331.2:p.Thr408Met