Canonical Allele Identifier: CA364356500
Community Standard Title: NM_001363705.2(UBR2):c.388G>C (p.Gly130Arg)
Gene: UBR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42592200G>C , CM000668.2:g.42592200G>C GRCh38
NC_000006.11:g.42559938G>C , CM000668.1:g.42559938G>C GRCh37
NC_000006.10:g.42667916G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001363705.2:c.388G>C MANE Select NP_001350634.1:p.Gly130Arg
ENST00000372901.2:c.388G>C MANE Select ENSP00000361992.1:p.Gly130Arg
NM_001184801.1:c.388G>C NP_001171730.1:p.Gly130Arg
NM_001184801.2:c.388G>C NP_001171730.1:p.Gly130Arg
NM_001363705.1:c.388G>C NP_001350634.1:p.Gly130Arg
NM_015255.2:c.388G>C NP_056070.1:p.Gly130Arg
NM_015255.3:c.388G>C NP_056070.1:p.Gly130Arg
ENST00000372899.5:c.388G>C ENSP00000361990.1:p.Gly130Arg
ENST00000372899.6:c.388G>C ENSP00000361990.1:p.Gly130Arg
ENST00000372901.1:c.388G>C ENSP00000361992.1:p.Gly130Arg
ENST00000372903.6:c.388G>C ENSP00000361994.2:p.Gly130Arg
XM_005248965.3:c.388G>C XP_005249022.1:p.Gly130Arg
XM_005248966.3:c.-1718G>C XP_005249023.1:n.-1718G>C
XM_011514438.1:c.202G>C XP_011512740.1:p.Gly68Arg
XM_011514438.2:c.469G>C XP_011512740.2:p.Gly157Arg
XM_011514442.1:c.388G>C XP_011512744.1:p.Gly130Arg
XM_017010594.1:c.469G>C XP_016866083.1:p.Gly157Arg
XM_017010595.1:c.469G>C XP_016866084.1:p.Gly157Arg
XM_017010596.1:c.388G>C XP_016866085.1:p.Gly130Arg
XM_017010597.1:c.469G>C XP_016866086.1:p.Gly157Arg
XR_001743284.2:n.887G>C
XR_001743285.1:n.888G>C