Canonical Allele Identifier: CA350416106

Gene: UNC80

Linked Data

• ClinVar Variation Id: 2159369
• ClinVar RCV Id: RCV003072780 ; RCV003134636
• dbSNP Id: rs2093445172
• gnomAD v3: 2-209994265-G-A
• gnomAD v4: 2-209994265-G-A
• MyVariant Identifiers: chr2:g.210858989G>A (hg19) ; chr2:g.209994265G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.209994265G>A , CM000664.2:g.209994265G>A	GRCh38
NC_000002.11:g.210858989G>A , CM000664.1:g.210858989G>A	GRCh37
NC_000002.10:g.210567234G>A	NCBI36
NG_051361.1:g.227341G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673920.1:c.9708+1G>A MANE Select	ENSP00000501211.1:n.9708+1G>A
ENST00000673951.1:c.9504+1G>A	ENSP00000501012.1:n.9504+1G>A
ENST00000272845.10:c.9438+1G>A	ENSP00000272845.5:n.9438+1G>A
ENST00000439458.5:c.9510+1G>A	ENSP00000391088.1:n.9510+1G>A
ENST00000477924.1:n.2201+1G>A
NM_032504.1:c.9510+1G>A	NP_115893.1:n.9510+1G>A
NM_182587.3:c.9438+1G>A	NP_872393.3:n.9438+1G>A
XM_005246476.1:c.9705+1G>A	XP_005246533.1:n.9705+1G>A
XM_011511004.1:c.9750+1G>A	XP_011509306.1:n.9750+1G>A
XM_011511005.1:c.9747+1G>A	XP_011509307.1:n.9747+1G>A
XM_011511006.1:c.9744+1G>A	XP_011509308.1:n.9744+1G>A
XM_011511007.1:c.9714+1G>A	XP_011509309.1:n.9714+1G>A
XM_011511008.1:c.9693+1G>A	XP_011509310.1:n.9693+1G>A
XM_017003884.1:c.9735+1G>A	XP_016859373.1:n.9735+1G>A
XM_017003885.1:c.9708+1G>A	XP_016859374.1:n.9708+1G>A
XM_017003886.1:c.9624+1G>A	XP_016859375.1:n.9624+1G>A
XM_017003887.1:c.9546+1G>A	XP_016859376.1:n.9546+1G>A
XM_017003888.1:c.9504+1G>A	XP_016859377.1:n.9504+1G>A
XM_017003889.1:c.9501+1G>A	XP_016859378.1:n.9501+1G>A
XM_017003890.1:c.9489+1G>A	XP_016859379.1:n.9489+1G>A
XM_017003891.1:c.9396+1G>A	XP_016859380.1:n.9396+1G>A
XM_017003892.1:c.7233+1G>A	XP_016859381.1:n.7233+1G>A
XM_017003894.1:c.5934+1G>A	XP_016859383.1:n.5934+1G>A
XR_002959283.1:n.9645+1G>A
NM_001371986.1:c.9708+1G>A MANE Select	NP_001358915.1:n.9708+1G>A
NM_182587.4:c.9438+1G>A	NP_872393.3:n.9438+1G>A
NM_032504.2:c.9510+1G>A	NP_115893.1:n.9510+1G>A