Canonical Allele Identifier: CA1619384462
Gene: SKIC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969707A= , CM000668.2:g.31969707A= GRCh38
NC_000006.11:g.31937484A= , CM000668.1:g.31937484A= GRCh37
NC_000006.10:g.32045463A= NCBI36
NG_032652.1:g.15904A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2781A= ENSP00000419905.1:n.*2781A=
ENST00000485349.6:n.4209A=
ENST00000491994.2:c.*275A= ENSP00000417586.2:n.*275A=
ENST00000494058.6:n.4035A=
ENST00000697831.1:c.3664A= ENSP00000513453.1:p.Thr1222=
ENST00000697832.1:n.3886A=
ENST00000697834.1:n.4451A=
ENST00000697835.1:c.*3251A= ENSP00000513455.1:n.*3251A=
ENST00000697837.1:c.*849A= ENSP00000513456.1:n.*849A=
ENST00000697838.1:c.3598A= ENSP00000513457.1:p.Thr1200=
ENST00000697839.1:n.4545A=
ENST00000697840.1:c.3769A= ENSP00000513458.1:p.Thr1257=
ENST00000697841.1:n.4644A=
ENST00000697842.1:n.3988A=
ENST00000375394.7:c.3733A= MANE Select ENSP00000364543.2:p.Thr1245=
ENST00000375394.6:c.3733A= ENSP00000364543.2:p.Thr1245=
ENST00000465703.5:n.4463A=
ENST00000471818.1:n.662A=
ENST00000474839.5:c.*3105A= ENSP00000420470.1:n.*3105A=
ENST00000483553.5:c.1263A=
ENST00000491994.1:c.822A=
NM_006929.4:c.3733A= NP_008860.4:p.Thr1245=
XR_926301.3:n.3749A=
NM_006929.5:c.3733A= MANE Select NP_008860.4:p.Thr1245=