Canonical Allele Identifier: CA369448988

Gene: UBE2H

Linked Data

• MyVariant Identifiers: chr7:g.129479045A>G (hg19) ; chr7:g.129839205A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129839205A>G , CM000669.2:g.129839205A>G	GRCh38
NC_000007.13:g.129479045A>G , CM000669.1:g.129479045A>G	GRCh37
NC_000007.12:g.129266281A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000355621.8:c.427+2T>C MANE Select	ENSP00000347836.3:n.427+2T>C
ENST00000649897.1:c.217+2T>C	ENSP00000497987.1:n.217+2T>C
ENST00000355621.7:c.427+2T>C	ENSP00000347836.3:n.427+2T>C
ENST00000472396.5:c.369T>C	ENSP00000419689.1:p.Gly123=
ENST00000473814.6:c.334+2T>C	ENSP00000419097.2:n.334+2T>C
ENST00000483368.1:n.535+2T>C
ENST00000496698.5:c.328+2T>C	ENSP00000417681.1:n.328+2T>C
NM_001202498.1:c.217+2T>C	NP_001189427.1:n.217+2T>C
NM_003344.3:c.427+2T>C	NP_003335.1:n.427+2T>C
NM_182697.2:c.334+2T>C	NP_874356.1:n.334+2T>C
XM_011516547.1:c.616+2T>C	XP_011514849.1:n.616+2T>C
NM_001202498.2:c.217+2T>C	NP_001189427.1:n.217+2T>C
NM_003344.4:c.427+2T>C MANE Select	NP_003335.1:n.427+2T>C
NM_182697.3:c.334+2T>C	NP_874356.1:n.334+2T>C