Canonical Allele Identifier: CA1619384308
Gene: SKIC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969339C= , CM000668.2:g.31969339C= GRCh38
NC_000006.11:g.31937116C= , CM000668.1:g.31937116C= GRCh37
NC_000006.10:g.32045095C= NCBI36
NG_032652.1:g.15536C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2413C= ENSP00000419905.1:n.*2413C=
ENST00000483553.6:c.*426C= ENSP00000420332.2:n.*426C=
ENST00000485349.6:n.3935C=
ENST00000491994.2:c.3459C= ENSP00000417586.2:p.Gly1153=
ENST00000494058.6:n.3761C=
ENST00000697831.1:c.3390C= ENSP00000513453.1:p.Gly1130=
ENST00000697832.1:n.3612C=
ENST00000697833.1:c.*407C= ENSP00000513454.1:n.*407C=
ENST00000697834.1:n.4083C=
ENST00000697835.1:c.*2977C= ENSP00000513455.1:n.*2977C=
ENST00000697836.1:n.3790C=
ENST00000697837.1:c.*575C= ENSP00000513456.1:n.*575C=
ENST00000697838.1:c.3324C= ENSP00000513457.1:p.Gly1108=
ENST00000697839.1:n.4177C=
ENST00000697840.1:c.3495C= ENSP00000513458.1:p.Gly1165=
ENST00000697841.1:n.4276C=
ENST00000697842.1:n.3714C=
ENST00000375394.7:c.3459C= MANE Select ENSP00000364543.2:p.Gly1153=
ENST00000375394.6:c.3459C= ENSP00000364543.2:p.Gly1153=
ENST00000465703.5:n.4095C=
ENST00000470453.1:n.382+23C=
ENST00000471818.1:n.388C=
ENST00000474839.5:c.*2831C= ENSP00000420470.1:n.*2831C=
ENST00000483553.5:c.895C=
ENST00000485349.5:n.665C=
ENST00000491994.1:c.454C=
NM_006929.4:c.3459C= NP_008860.4:p.Gly1153=
XR_001743586.2:n.3558C=
XR_926301.3:n.3475C=
NM_006929.5:c.3459C= MANE Select NP_008860.4:p.Gly1153=