Canonical Allele Identifier: CA128758711

Gene: UBE2D2

Linked Data

• dbSNP Id: rs947626977
• gnomAD v2: 5-138949235-G-A
• gnomAD v3: 5-139569650-G-A
• gnomAD v4: 5-139569650-G-A
• MyVariant Identifiers: chr5:g.138949235G>A (hg19) ; chr5:g.139569650G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139569650G>A , CM000667.2:g.139569650G>A	GRCh38
NC_000005.9:g.138949235G>A , CM000667.1:g.138949235G>A	GRCh37
NC_000005.8:g.138929419G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000698321.1:c.-162+7243G>A	ENSP00000513666.1:n.-162+7243G>A
ENST00000398733.8:c.24+7835G>A MANE Select	ENSP00000381717.3:n.24+7835G>A
ENST00000398733.7:c.24+7835G>A	ENSP00000381717.3:n.24+7835G>A
ENST00000398734.8:c.24+7835G>A	ENSP00000381718.4:n.24+7835G>A
ENST00000505007.5:c.-64+7243G>A	ENSP00000426523.1:n.-64+7243G>A
ENST00000505548.5:c.-64+7243G>A	ENSP00000424941.1:n.-64+7243G>A
ENST00000510470.1:n.92+7835G>A
ENST00000511725.5:c.-63-30722G>A	ENSP00000429613.1:n.-63-30722G>A
NM_003339.2:c.24+7835G>A	NP_003330.1:n.24+7835G>A
NM_181838.1:c.-64+7243G>A	NP_862821.1:n.-64+7243G>A
XM_017009820.1:c.-96+7019G>A	XP_016865309.1:n.-96+7019G>A
NM_003339.3:c.24+7835G>A MANE Select	NP_003330.1:n.24+7835G>A
NM_181838.2:c.-64+7243G>A	NP_862821.1:n.-64+7243G>A