Canonical Allele Identifier: CA1619384304
Gene: SKIC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969334T= , CM000668.2:g.31969334T= GRCh38
NC_000006.11:g.31937111T= , CM000668.1:g.31937111T= GRCh37
NC_000006.10:g.32045090T= NCBI36
NG_032652.1:g.15531T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2408T= ENSP00000419905.1:n.*2408T=
ENST00000483553.6:c.*421T= ENSP00000420332.2:n.*421T=
ENST00000485349.6:n.3930T=
ENST00000491994.2:c.3454T= ENSP00000417586.2:p.Cys1152=
ENST00000494058.6:n.3756T=
ENST00000697831.1:c.3385T= ENSP00000513453.1:p.Cys1129=
ENST00000697832.1:n.3607T=
ENST00000697833.1:c.*402T= ENSP00000513454.1:n.*402T=
ENST00000697834.1:n.4078T=
ENST00000697835.1:c.*2972T= ENSP00000513455.1:n.*2972T=
ENST00000697836.1:n.3785T=
ENST00000697837.1:c.*570T= ENSP00000513456.1:n.*570T=
ENST00000697838.1:c.3319T= ENSP00000513457.1:p.Cys1107=
ENST00000697839.1:n.4172T=
ENST00000697840.1:c.3490T= ENSP00000513458.1:p.Cys1164=
ENST00000697841.1:n.4271T=
ENST00000697842.1:n.3709T=
ENST00000375394.7:c.3454T= MANE Select ENSP00000364543.2:p.Cys1152=
ENST00000375394.6:c.3454T= ENSP00000364543.2:p.Cys1152=
ENST00000465703.5:n.4090T=
ENST00000470453.1:n.382+18T=
ENST00000471818.1:n.383T=
ENST00000474839.5:c.*2826T= ENSP00000420470.1:n.*2826T=
ENST00000483553.5:c.890T=
ENST00000485349.5:n.660T=
ENST00000491994.1:c.449T=
NM_006929.4:c.3454T= NP_008860.4:p.Cys1152=
XR_001743586.2:n.3553T=
XR_926301.3:n.3470T=
NM_006929.5:c.3454T= MANE Select NP_008860.4:p.Cys1152=