Canonical Allele Identifier: CA10616730
Gene: IMPG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 342322
ClinVar RCV Id: RCV000350867
dbSNP Id: rs151199078
gnomAD v2: 3-100945387-C-T
gnomAD v3: 3-101226543-C-T
gnomAD v4: 3-101226543-C-T
MyVariant Identifiers: chr3:g.100945387C>T (hg19) chr3:g.101226543C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.101226543C>T , CM000665.2:g.101226543C>T GRCh38
NC_000003.11:g.100945387C>T , CM000665.1:g.100945387C>T GRCh37
NC_000003.10:g.102428077C>T NCBI36
NG_028284.1:g.99033G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000193391.8:c.*426G>A MANE Select ENSP00000193391.6:n.*426G>A
ENST00000193391.7:c.*426G>A ENSP00000193391.6:n.*426G>A
NM_016247.3:c.*426G>A NP_057331.2:n.*426G>A
XM_011512871.1:c.*426G>A XP_011511173.1:n.*426G>A
XM_011512872.1:c.*426G>A XP_011511174.1:n.*426G>A
NM_016247.4:c.*426G>A MANE Select NP_057331.2:n.*426G>A
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