Canonical Allele Identifier: CA563469323

Gene: UBE2D2

Linked Data

• dbSNP Id: rs1420032673
• gnomAD v2: 5-138949450-TTTG-T
• gnomAD v3: 5-139569865-TTTG-T
• gnomAD v4: 5-139569865-TTTG-T
• MyVariant Identifiers: chr5:g.138949451_138949453del (hg19) ; chr5:g.139569866_139569868del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139569868_139569870del , CM000667.2:g.139569868_139569870del	GRCh38
NC_000005.9:g.138949453_138949455del , CM000667.1:g.138949453_138949455del	GRCh37
NC_000005.8:g.138929637_138929639del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698321.1:c.-162+7461_-162+7463del	ENSP00000513666.1:n.-162+7461_-162+7463del
ENST00000398733.8:c.24+8053_24+8055del MANE Select	ENSP00000381717.3:n.24+8053_24+8055del
ENST00000398733.7:c.24+8053_24+8055del	ENSP00000381717.3:n.24+8053_24+8055del
ENST00000398734.8:c.24+8053_24+8055del	ENSP00000381718.4:n.24+8053_24+8055del
ENST00000505007.5:c.-64+7461_-64+7463del	ENSP00000426523.1:n.-64+7461_-64+7463del
ENST00000505548.5:c.-64+7461_-64+7463del	ENSP00000424941.1:n.-64+7461_-64+7463del
ENST00000510470.1:n.92+8053_92+8055del
ENST00000511725.5:c.-63-30504_-63-30502del	ENSP00000429613.1:n.-63-30504_-63-30502del
NM_003339.2:c.24+8053_24+8055del	NP_003330.1:n.24+8053_24+8055del
NM_181838.1:c.-64+7461_-64+7463del	NP_862821.1:n.-64+7461_-64+7463del
XM_017009820.1:c.-96+7237_-96+7239del	XP_016865309.1:n.-96+7237_-96+7239del
NM_003339.3:c.24+8053_24+8055del MANE Select	NP_003330.1:n.24+8053_24+8055del
NM_181838.2:c.-64+7461_-64+7463del	NP_862821.1:n.-64+7461_-64+7463del