Canonical Allele Identifier: CA364356688

Gene: UBR2

Linked Data

• gnomAD v4: 6-42594239-G-A
• MyVariant Identifiers: chr6:g.42561977G>A (hg19) ; chr6:g.42594239G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42594239G>A , CM000668.2:g.42594239G>A	GRCh38
NC_000006.11:g.42561977G>A , CM000668.1:g.42561977G>A	GRCh37
NC_000006.10:g.42669955G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372899.6:c.466G>A	ENSP00000361990.1:p.Ala156Thr
ENST00000372901.2:c.466G>A MANE Select	ENSP00000361992.1:p.Ala156Thr
ENST00000372899.5:c.466G>A	ENSP00000361990.1:p.Ala156Thr
ENST00000372901.1:c.466G>A	ENSP00000361992.1:p.Ala156Thr
ENST00000372903.6:c.466G>A	ENSP00000361994.2:p.Ala156Thr
NM_001184801.1:c.466G>A	NP_001171730.1:p.Ala156Thr
NM_015255.2:c.466G>A	NP_056070.1:p.Ala156Thr
XM_005248965.3:c.466G>A	XP_005249022.1:p.Ala156Thr
XM_011514438.1:c.280G>A	XP_011512740.1:p.Ala94Thr
XM_011514442.1:c.466G>A	XP_011512744.1:p.Ala156Thr
NM_001363705.1:c.466G>A	NP_001350634.1:p.Ala156Thr
XM_005248966.3:c.-1640G>A	XP_005249023.1:n.-1640G>A
XM_011514438.2:c.547G>A	XP_011512740.2:p.Ala183Thr
XM_017010594.1:c.547G>A	XP_016866083.1:p.Ala183Thr
XM_017010595.1:c.547G>A	XP_016866084.1:p.Ala183Thr
XM_017010596.1:c.466G>A	XP_016866085.1:p.Ala156Thr
XM_017010597.1:c.547G>A	XP_016866086.1:p.Ala183Thr
XR_001743284.2:n.965G>A
XR_001743285.1:n.966G>A
NM_001184801.2:c.466G>A	NP_001171730.1:p.Ala156Thr
NM_001363705.2:c.466G>A MANE Select	NP_001350634.1:p.Ala156Thr
NM_015255.3:c.466G>A	NP_056070.1:p.Ala156Thr