Canonical Allele Identifier: CA174596
Gene: URB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 161685
ClinVar RCV Id: RCV000149221
dbSNP Id: rs193921013
ExAC: 1:229771732 C / G
gnomAD v2: 1-229771732-C-G
gnomAD v4: 1-229635985-C-G
MyVariant Identifiers: chr1:g.229771732C>G (hg19) chr1:g.229635985C>G (hg38)
PubMed: PMID:23265383
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229635985C>G , CM000663.2:g.229635985C>G GRCh38
NC_000001.10:g.229771732C>G , CM000663.1:g.229771732C>G GRCh37
NC_000001.9:g.227838355C>G NCBI36
NG_050743.1:g.14781C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258243.7:c.1372C>G MANE Select ENSP00000258243.2:p.Gln458Glu
ENST00000258243.6:c.1372C>G ENSP00000258243.2:p.Gln458Glu
NM_001314021.1:c.1372C>G NP_001300950.1:p.Gln458Glu
NM_014777.2:c.1372C>G NP_055592.2:p.Gln458Glu
NM_014777.3:c.1372C>G NP_055592.2:p.Gln458Glu
XM_005273360.2:c.1372C>G XP_005273417.1:p.Gln458Glu
XM_005273360.3:c.1372C>G XP_005273417.1:p.Gln458Glu
NM_014777.4:c.1372C>G MANE Select NP_055592.2:p.Gln458Glu
NM_001314021.2:c.1372C>G NP_001300950.1:p.Gln458Glu
Search 100 bp 5'
Search 100 bp 3'