Canonical Allele Identifier: CA1619384434
Gene: SKIC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969645C= , CM000668.2:g.31969645C= GRCh38
NC_000006.11:g.31937422C= , CM000668.1:g.31937422C= GRCh37
NC_000006.10:g.32045401C= NCBI36
NG_032652.1:g.15842C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2719C= ENSP00000419905.1:n.*2719C=
ENST00000485349.6:n.4147C=
ENST00000491994.2:c.*213C= ENSP00000417586.2:n.*213C=
ENST00000494058.6:n.3973C=
ENST00000697831.1:c.3602C= ENSP00000513453.1:p.Ala1201=
ENST00000697832.1:n.3824C=
ENST00000697834.1:n.4389C=
ENST00000697835.1:c.*3189C= ENSP00000513455.1:n.*3189C=
ENST00000697836.1:n.4025C=
ENST00000697837.1:c.*787C= ENSP00000513456.1:n.*787C=
ENST00000697838.1:c.3536C= ENSP00000513457.1:p.Ala1179=
ENST00000697839.1:n.4483C=
ENST00000697840.1:c.3707C= ENSP00000513458.1:p.Ala1236=
ENST00000697841.1:n.4582C=
ENST00000697842.1:n.3926C=
ENST00000375394.7:c.3671C= MANE Select ENSP00000364543.2:p.Ala1224=
ENST00000375394.6:c.3671C= ENSP00000364543.2:p.Ala1224=
ENST00000465703.5:n.4401C=
ENST00000471818.1:n.600C=
ENST00000474839.5:c.*3043C= ENSP00000420470.1:n.*3043C=
ENST00000483553.5:c.1201C=
ENST00000491994.1:c.760C=
NM_006929.4:c.3671C= NP_008860.4:p.Ala1224=
XR_926301.3:n.3687C=
NM_006929.5:c.3671C= MANE Select NP_008860.4:p.Ala1224=