Canonical Allele Identifier: CA369449021

Gene: UBE2H

Linked Data

• dbSNP Id: rs1261405824
• gnomAD v3: 7-129839210-T-G
• gnomAD v4: 7-129839210-T-G
• MyVariant Identifiers: chr7:g.129479050T>G (hg19) ; chr7:g.129839210T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129839210T>G , CM000669.2:g.129839210T>G	GRCh38
NC_000007.13:g.129479050T>G , CM000669.1:g.129479050T>G	GRCh37
NC_000007.12:g.129266286T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000355621.8:c.424A>C MANE Select	ENSP00000347836.3:p.Lys142Gln
ENST00000649897.1:c.214A>C	ENSP00000497987.1:p.Lys72Gln
ENST00000355621.7:c.424A>C	ENSP00000347836.3:p.Lys142Gln
ENST00000472396.5:c.364A>C	ENSP00000419689.1:p.Lys122Gln
ENST00000473814.6:c.331A>C	ENSP00000419097.2:p.Lys111Gln
ENST00000483368.1:n.532A>C
ENST00000496698.5:c.325A>C	ENSP00000417681.1:p.Lys109Gln
NM_001202498.1:c.214A>C	NP_001189427.1:p.Lys72Gln
NM_003344.3:c.424A>C	NP_003335.1:p.Lys142Gln
NM_182697.2:c.331A>C	NP_874356.1:p.Lys111Gln
XM_011516547.1:c.613A>C	XP_011514849.1:p.Lys205Gln
NM_001202498.2:c.214A>C	NP_001189427.1:p.Lys72Gln
NM_003344.4:c.424A>C MANE Select	NP_003335.1:p.Lys142Gln
NM_182697.3:c.331A>C	NP_874356.1:p.Lys111Gln