Canonical Allele Identifier: CA1619384423
Gene: SKIC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969618G= , CM000668.2:g.31969618G= GRCh38
NC_000006.11:g.31937395G= , CM000668.1:g.31937395G= GRCh37
NC_000006.10:g.32045374G= NCBI36
NG_032652.1:g.15815G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2692G= ENSP00000419905.1:n.*2692G=
ENST00000485349.6:n.4120G=
ENST00000491994.2:c.*186G= ENSP00000417586.2:n.*186G=
ENST00000494058.6:n.3946G=
ENST00000697831.1:c.3575G= ENSP00000513453.1:p.Arg1192=
ENST00000697832.1:n.3797G=
ENST00000697834.1:n.4362G=
ENST00000697835.1:c.*3162G= ENSP00000513455.1:n.*3162G=
ENST00000697836.1:n.3998G=
ENST00000697837.1:c.*760G= ENSP00000513456.1:n.*760G=
ENST00000697838.1:c.3509G= ENSP00000513457.1:p.Arg1170=
ENST00000697839.1:n.4456G=
ENST00000697840.1:c.3680G= ENSP00000513458.1:p.Arg1227=
ENST00000697841.1:n.4555G=
ENST00000697842.1:n.3899G=
ENST00000375394.7:c.3644G= MANE Select ENSP00000364543.2:p.Arg1215=
ENST00000375394.6:c.3644G= ENSP00000364543.2:p.Arg1215=
ENST00000465703.5:n.4374G=
ENST00000471818.1:n.573G=
ENST00000474839.5:c.*3016G= ENSP00000420470.1:n.*3016G=
ENST00000483553.5:c.1174G=
ENST00000491994.1:c.733G=
NM_006929.4:c.3644G= NP_008860.4:p.Arg1215=
XR_926301.3:n.3660G=
NM_006929.5:c.3644G= MANE Select NP_008860.4:p.Arg1215=