Canonical Allele Identifier: CA450339163

Gene: UBR2

Linked Data

• dbSNP Id: rs1219858190
• gnomAD v2: 6-42561976-A-G
• gnomAD v3: 6-42594238-A-G
• gnomAD v4: 6-42594238-A-G
• MyVariant Identifiers: chr6:g.42561976A>G (hg19) ; chr6:g.42594238A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42594238A>G , CM000668.2:g.42594238A>G	GRCh38
NC_000006.11:g.42561976A>G , CM000668.1:g.42561976A>G	GRCh37
NC_000006.10:g.42669954A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000372899.6:c.465A>G	ENSP00000361990.1:p.Glu155=
ENST00000372901.2:c.465A>G MANE Select	ENSP00000361992.1:p.Glu155=
ENST00000372899.5:c.465A>G	ENSP00000361990.1:p.Glu155=
ENST00000372901.1:c.465A>G	ENSP00000361992.1:p.Glu155=
ENST00000372903.6:c.465A>G	ENSP00000361994.2:p.Glu155=
NM_001184801.1:c.465A>G	NP_001171730.1:p.Glu155=
NM_015255.2:c.465A>G	NP_056070.1:p.Glu155=
XM_005248965.3:c.465A>G	XP_005249022.1:p.Glu155=
XM_011514438.1:c.279A>G	XP_011512740.1:p.Glu93=
XM_011514442.1:c.465A>G	XP_011512744.1:p.Glu155=
NM_001363705.1:c.465A>G	NP_001350634.1:p.Glu155=
XM_005248966.3:c.-1641A>G	XP_005249023.1:n.-1641A>G
XM_011514438.2:c.546A>G	XP_011512740.2:p.Glu182=
XM_017010594.1:c.546A>G	XP_016866083.1:p.Glu182=
XM_017010595.1:c.546A>G	XP_016866084.1:p.Glu182=
XM_017010596.1:c.465A>G	XP_016866085.1:p.Glu155=
XM_017010597.1:c.546A>G	XP_016866086.1:p.Glu182=
XR_001743284.2:n.964A>G
XR_001743285.1:n.965A>G
NM_001184801.2:c.465A>G	NP_001171730.1:p.Glu155=
NM_001363705.2:c.465A>G MANE Select	NP_001350634.1:p.Glu155=
NM_015255.3:c.465A>G	NP_056070.1:p.Glu155=