Canonical Allele Identifier: CA6181209

Gene: UCP2

Linked Data

• ClinVar Variation Id: 437199
• ClinVar RCV Id: RCV000504343 ; RCV000895120 ; RCV002496960 ; RCV003925496
• dbSNP Id: rs45541732
• ExAC: 11:73689041 C / T
• gnomAD v2: 11-73689041-C-T
• gnomAD v3: 11-73977996-C-T
• gnomAD v4: 11-73977996-C-T
• MyVariant Identifiers: chr11:g.73689041C>T (hg19) ; chr11:g.73689041_73689042delinsTG (hg19) ; chr11:g.73977996C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.73977996C>T , CM000673.2:g.73977996C>T	GRCh38
NC_000011.9:g.73689041C>T , CM000673.1:g.73689041C>T	GRCh37
NC_000011.8:g.73366689C>T	NCBI36
NG_011478.1:g.9849G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310473.9:c.227G>A	ENSP00000312029.3:p.Arg76Gln
ENST00000663595.2:c.227G>A MANE Select	ENSP00000499695.1:p.Arg76Gln
ENST00000310473.7:c.227G>A	ENSP00000312029.3:p.Arg76Gln
ENST00000536983.5:c.227G>A	ENSP00000441147.1:p.Arg76Gln
ENST00000544615.5:c.146G>A	ENSP00000439951.1:p.Arg49Gln
NM_003355.2:c.227G>A	NP_003346.2:p.Arg76Gln
XM_024448674.1:c.230G>A	XP_024304442.1:p.Arg77Gln
NM_001381943.1:c.227G>A	NP_001368872.1:p.Arg76Gln
NM_001381944.1:c.227G>A	NP_001368873.1:p.Arg76Gln
NM_001381945.1:c.227G>A	NP_001368874.1:p.Arg76Gln
NM_001381947.1:c.227G>A	NP_001368876.1:p.Arg76Gln
NM_001381948.1:c.227G>A	NP_001368877.1:p.Arg76Gln
NM_001381949.1:c.227G>A	NP_001368878.1:p.Arg76Gln
NM_001381950.1:c.227G>A	NP_001368879.1:p.Arg76Gln
NM_003355.3:c.227G>A MANE Select	NP_003346.2:p.Arg76Gln