Canonical Allele Identifier: CA1619384455
Gene: SKIC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969693C= , CM000668.2:g.31969693C= GRCh38
NC_000006.11:g.31937470C= , CM000668.1:g.31937470C= GRCh37
NC_000006.10:g.32045449C= NCBI36
NG_032652.1:g.15890C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2767C= ENSP00000419905.1:n.*2767C=
ENST00000485349.6:n.4195C=
ENST00000491994.2:c.*261C= ENSP00000417586.2:n.*261C=
ENST00000494058.6:n.4021C=
ENST00000697831.1:c.3650C= ENSP00000513453.1:p.Ala1217=
ENST00000697832.1:n.3872C=
ENST00000697834.1:n.4437C=
ENST00000697835.1:c.*3237C= ENSP00000513455.1:n.*3237C=
ENST00000697836.1:n.4073C=
ENST00000697837.1:c.*835C= ENSP00000513456.1:n.*835C=
ENST00000697838.1:c.3584C= ENSP00000513457.1:p.Ala1195=
ENST00000697839.1:n.4531C=
ENST00000697840.1:c.3755C= ENSP00000513458.1:p.Ala1252=
ENST00000697841.1:n.4630C=
ENST00000697842.1:n.3974C=
ENST00000375394.7:c.3719C= MANE Select ENSP00000364543.2:p.Ala1240=
ENST00000375394.6:c.3719C= ENSP00000364543.2:p.Ala1240=
ENST00000465703.5:n.4449C=
ENST00000471818.1:n.648C=
ENST00000474839.5:c.*3091C= ENSP00000420470.1:n.*3091C=
ENST00000483553.5:c.1249C=
ENST00000491994.1:c.808C=
NM_006929.4:c.3719C= NP_008860.4:p.Ala1240=
XR_926301.3:n.3735C=
NM_006929.5:c.3719C= MANE Select NP_008860.4:p.Ala1240=