Canonical Allele Identifier: CA1619384400
Gene: SKIC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969566C= , CM000668.2:g.31969566C= GRCh38
NC_000006.11:g.31937343C= , CM000668.1:g.31937343C= GRCh37
NC_000006.10:g.32045322C= NCBI36
NG_032652.1:g.15763C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2640C= ENSP00000419905.1:n.*2640C=
ENST00000485349.6:n.4068C=
ENST00000491994.2:c.*134C= ENSP00000417586.2:n.*134C=
ENST00000494058.6:n.3894C=
ENST00000697831.1:c.3523C= ENSP00000513453.1:p.Arg1175=
ENST00000697832.1:n.3745C=
ENST00000697833.1:c.*540C= ENSP00000513454.1:n.*540C=
ENST00000697834.1:n.4310C=
ENST00000697835.1:c.*3110C= ENSP00000513455.1:n.*3110C=
ENST00000697836.1:n.3946C=
ENST00000697837.1:c.*708C= ENSP00000513456.1:n.*708C=
ENST00000697838.1:c.3457C= ENSP00000513457.1:p.Arg1153=
ENST00000697839.1:n.4404C=
ENST00000697840.1:c.3628C= ENSP00000513458.1:p.Arg1210=
ENST00000697841.1:n.4503C=
ENST00000697842.1:n.3847C=
ENST00000375394.7:c.3592C= MANE Select ENSP00000364543.2:p.Arg1198=
ENST00000375394.6:c.3592C= ENSP00000364543.2:p.Arg1198=
ENST00000465703.5:n.4322C=
ENST00000470453.1:n.434C=
ENST00000471818.1:n.521C=
ENST00000474839.5:c.*2964C= ENSP00000420470.1:n.*2964C=
ENST00000483553.5:c.1122C=
ENST00000491994.1:c.681C=
NM_006929.4:c.3592C= NP_008860.4:p.Arg1198=
XR_926301.3:n.3608C=
NM_006929.5:c.3592C= MANE Select NP_008860.4:p.Arg1198=