Canonical Allele Identifier: CA1619384427
Gene: SKIC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969625A= , CM000668.2:g.31969625A= GRCh38
NC_000006.11:g.31937402A= , CM000668.1:g.31937402A= GRCh37
NC_000006.10:g.32045381A= NCBI36
NG_032652.1:g.15822A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2699A= ENSP00000419905.1:n.*2699A=
ENST00000485349.6:n.4127A=
ENST00000491994.2:c.*193A= ENSP00000417586.2:n.*193A=
ENST00000494058.6:n.3953A=
ENST00000697831.1:c.3582A= ENSP00000513453.1:p.Val1194=
ENST00000697832.1:n.3804A=
ENST00000697834.1:n.4369A=
ENST00000697835.1:c.*3169A= ENSP00000513455.1:n.*3169A=
ENST00000697836.1:n.4005A=
ENST00000697837.1:c.*767A= ENSP00000513456.1:n.*767A=
ENST00000697838.1:c.3516A= ENSP00000513457.1:p.Val1172=
ENST00000697839.1:n.4463A=
ENST00000697840.1:c.3687A= ENSP00000513458.1:p.Val1229=
ENST00000697841.1:n.4562A=
ENST00000697842.1:n.3906A=
ENST00000375394.7:c.3651A= MANE Select ENSP00000364543.2:p.Val1217=
ENST00000375394.6:c.3651A= ENSP00000364543.2:p.Val1217=
ENST00000465703.5:n.4381A=
ENST00000471818.1:n.580A=
ENST00000474839.5:c.*3023A= ENSP00000420470.1:n.*3023A=
ENST00000483553.5:c.1181A=
ENST00000491994.1:c.740A=
NM_006929.4:c.3651A= NP_008860.4:p.Val1217=
XR_926301.3:n.3667A=
NM_006929.5:c.3651A= MANE Select NP_008860.4:p.Val1217=