Canonical Allele Identifier: CA364356698

Gene: UBR2

Linked Data

• MyVariant Identifiers: chr6:g.42561981G>C (hg19) ; chr6:g.42594243G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42594243G>C , CM000668.2:g.42594243G>C	GRCh38
NC_000006.11:g.42561981G>C , CM000668.1:g.42561981G>C	GRCh37
NC_000006.10:g.42669959G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000372899.6:c.470G>C	ENSP00000361990.1:p.Trp157Ser
ENST00000372901.2:c.470G>C MANE Select	ENSP00000361992.1:p.Trp157Ser
ENST00000372899.5:c.470G>C	ENSP00000361990.1:p.Trp157Ser
ENST00000372901.1:c.470G>C	ENSP00000361992.1:p.Trp157Ser
ENST00000372903.6:c.470G>C	ENSP00000361994.2:p.Trp157Ser
NM_001184801.1:c.470G>C	NP_001171730.1:p.Trp157Ser
NM_015255.2:c.470G>C	NP_056070.1:p.Trp157Ser
XM_005248965.3:c.470G>C	XP_005249022.1:p.Trp157Ser
XM_011514438.1:c.284G>C	XP_011512740.1:p.Trp95Ser
XM_011514442.1:c.470G>C	XP_011512744.1:p.Trp157Ser
NM_001363705.1:c.470G>C	NP_001350634.1:p.Trp157Ser
XM_005248966.3:c.-1636G>C	XP_005249023.1:n.-1636G>C
XM_011514438.2:c.551G>C	XP_011512740.2:p.Trp184Ser
XM_017010594.1:c.551G>C	XP_016866083.1:p.Trp184Ser
XM_017010595.1:c.551G>C	XP_016866084.1:p.Trp184Ser
XM_017010596.1:c.470G>C	XP_016866085.1:p.Trp157Ser
XM_017010597.1:c.551G>C	XP_016866086.1:p.Trp184Ser
XR_001743284.2:n.969G>C
XR_001743285.1:n.970G>C
NM_001184801.2:c.470G>C	NP_001171730.1:p.Trp157Ser
NM_001363705.2:c.470G>C MANE Select	NP_001350634.1:p.Trp157Ser
NM_015255.3:c.470G>C	NP_056070.1:p.Trp157Ser