Canonical Allele Identifier: CA1619384330
Gene: SKIC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969388G= , CM000668.2:g.31969388G= GRCh38
NC_000006.11:g.31937165G= , CM000668.1:g.31937165G= GRCh37
NC_000006.10:g.32045144G= NCBI36
NG_032652.1:g.15585G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2462G= ENSP00000419905.1:n.*2462G=
ENST00000483553.6:c.*475G= ENSP00000420332.2:n.*475G=
ENST00000485349.6:n.3984G=
ENST00000491994.2:c.3508G= ENSP00000417586.2:p.Val1170=
ENST00000494058.6:n.3810G=
ENST00000697831.1:c.3439G= ENSP00000513453.1:p.Val1147=
ENST00000697832.1:n.3661G=
ENST00000697833.1:c.*456G= ENSP00000513454.1:n.*456G=
ENST00000697834.1:n.4132G=
ENST00000697835.1:c.*3026G= ENSP00000513455.1:n.*3026G=
ENST00000697836.1:n.3839G=
ENST00000697837.1:c.*624G= ENSP00000513456.1:n.*624G=
ENST00000697838.1:c.3373G= ENSP00000513457.1:p.Val1125=
ENST00000697839.1:n.4226G=
ENST00000697840.1:c.3544G= ENSP00000513458.1:p.Val1182=
ENST00000697841.1:n.4325G=
ENST00000697842.1:n.3763G=
ENST00000375394.7:c.3508G= MANE Select ENSP00000364543.2:p.Val1170=
ENST00000375394.6:c.3508G= ENSP00000364543.2:p.Val1170=
ENST00000465703.5:n.4144G=
ENST00000470453.1:n.382+72G=
ENST00000471818.1:n.437G=
ENST00000474839.5:c.*2880G= ENSP00000420470.1:n.*2880G=
ENST00000483553.5:c.944G=
ENST00000485349.5:n.714G=
ENST00000491994.1:c.503G=
NM_006929.4:c.3508G= NP_008860.4:p.Val1170=
XR_001743586.2:n.3607G=
XR_926301.3:n.3524G=
NM_006929.5:c.3508G= MANE Select NP_008860.4:p.Val1170=