Canonical Allele Identifier: CA363489956
Gene: SKIC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969359A>T , CM000668.2:g.31969359A>T GRCh38
NC_000006.11:g.31937136A>T , CM000668.1:g.31937136A>T GRCh37
NC_000006.10:g.32045115A>T NCBI36
NG_032652.1:g.15556A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2433A>T ENSP00000419905.1:n.*2433A>T
ENST00000483553.6:c.*446A>T ENSP00000420332.2:n.*446A>T
ENST00000485349.6:n.3955A>T
ENST00000491994.2:c.3479A>T ENSP00000417586.2:p.Glu1160Val
ENST00000494058.6:n.3781A>T
ENST00000697831.1:c.3410A>T ENSP00000513453.1:p.Glu1137Val
ENST00000697832.1:n.3632A>T
ENST00000697833.1:c.*427A>T ENSP00000513454.1:n.*427A>T
ENST00000697834.1:n.4103A>T
ENST00000697835.1:c.*2997A>T ENSP00000513455.1:n.*2997A>T
ENST00000697836.1:n.3810A>T
ENST00000697837.1:c.*595A>T ENSP00000513456.1:n.*595A>T
ENST00000697838.1:c.3344A>T ENSP00000513457.1:p.Glu1115Val
ENST00000697839.1:n.4197A>T
ENST00000697840.1:c.3515A>T ENSP00000513458.1:p.Glu1172Val
ENST00000697841.1:n.4296A>T
ENST00000697842.1:n.3734A>T
ENST00000375394.7:c.3479A>T MANE Select ENSP00000364543.2:p.Glu1160Val
ENST00000375394.6:c.3479A>T ENSP00000364543.2:p.Glu1160Val
ENST00000465703.5:n.4115A>T
ENST00000470453.1:n.382+43A>T
ENST00000471818.1:n.408A>T
ENST00000474839.5:c.*2851A>T ENSP00000420470.1:n.*2851A>T
ENST00000483553.5:c.915A>T
ENST00000485349.5:n.685A>T
ENST00000491994.1:c.474A>T
NM_006929.4:c.3479A>T NP_008860.4:p.Glu1160Val
XR_001743586.2:n.3578A>T
XR_926301.3:n.3495A>T
NM_006929.5:c.3479A>T MANE Select NP_008860.4:p.Glu1160Val