Canonical Allele Identifier: CA1619384324

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969366G= , CM000668.2:g.31969366G=	GRCh38
NC_000006.11:g.31937143G= , CM000668.1:g.31937143G=	GRCh37
NC_000006.10:g.32045122G=	NCBI36
NG_032652.1:g.15563G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2440G=	ENSP00000419905.1:n.*2440G=
ENST00000483553.6:c.*453G=	ENSP00000420332.2:n.*453G=
ENST00000485349.6:n.3962G=
ENST00000491994.2:c.3486G=	ENSP00000417586.2:p.Val1162=
ENST00000494058.6:n.3788G=
ENST00000697831.1:c.3417G=	ENSP00000513453.1:p.Val1139=
ENST00000697832.1:n.3639G=
ENST00000697833.1:c.*434G=	ENSP00000513454.1:n.*434G=
ENST00000697834.1:n.4110G=
ENST00000697835.1:c.*3004G=	ENSP00000513455.1:n.*3004G=
ENST00000697836.1:n.3817G=
ENST00000697837.1:c.*602G=	ENSP00000513456.1:n.*602G=
ENST00000697838.1:c.3351G=	ENSP00000513457.1:p.Val1117=
ENST00000697839.1:n.4204G=
ENST00000697840.1:c.3522G=	ENSP00000513458.1:p.Val1174=
ENST00000697841.1:n.4303G=
ENST00000697842.1:n.3741G=
ENST00000375394.7:c.3486G= MANE Select	ENSP00000364543.2:p.Val1162=
ENST00000375394.6:c.3486G=	ENSP00000364543.2:p.Val1162=
ENST00000465703.5:n.4122G=
ENST00000470453.1:n.382+50G=
ENST00000471818.1:n.415G=
ENST00000474839.5:c.*2858G=	ENSP00000420470.1:n.*2858G=
ENST00000483553.5:c.922G=
ENST00000485349.5:n.692G=
ENST00000491994.1:c.481G=
NM_006929.4:c.3486G=	NP_008860.4:p.Val1162=
XR_001743586.2:n.3585G=
XR_926301.3:n.3502G=
NM_006929.5:c.3486G= MANE Select	NP_008860.4:p.Val1162=