Canonical Allele Identifier: CA1619384341

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969412C= , CM000668.2:g.31969412C=	GRCh38
NC_000006.11:g.31937189C= , CM000668.1:g.31937189C=	GRCh37
NC_000006.10:g.32045168C=	NCBI36
NG_032652.1:g.15609C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2486C=	ENSP00000419905.1:n.*2486C=
ENST00000483553.6:c.*499C=	ENSP00000420332.2:n.*499C=
ENST00000485349.6:n.4008C=
ENST00000491994.2:c.3532C=	ENSP00000417586.2:p.Arg1178=
ENST00000494058.6:n.3834C=
ENST00000697831.1:c.3463C=	ENSP00000513453.1:p.Arg1155=
ENST00000697832.1:n.3685C=
ENST00000697833.1:c.*480C=	ENSP00000513454.1:n.*480C=
ENST00000697834.1:n.4156C=
ENST00000697835.1:c.*3050C=	ENSP00000513455.1:n.*3050C=
ENST00000697836.1:n.3863C=
ENST00000697837.1:c.*648C=	ENSP00000513456.1:n.*648C=
ENST00000697838.1:c.3397C=	ENSP00000513457.1:p.Arg1133=
ENST00000697839.1:n.4250C=
ENST00000697840.1:c.3568C=	ENSP00000513458.1:p.Arg1190=
ENST00000697841.1:n.4349C=
ENST00000697842.1:n.3787C=
ENST00000375394.7:c.3532C= MANE Select	ENSP00000364543.2:p.Arg1178=
ENST00000375394.6:c.3532C=	ENSP00000364543.2:p.Arg1178=
ENST00000465703.5:n.4168C=
ENST00000470453.1:n.382+96C=
ENST00000471818.1:n.461C=
ENST00000474839.5:c.*2904C=	ENSP00000420470.1:n.*2904C=
ENST00000483553.5:c.968C=
ENST00000491994.1:c.527C=
NM_006929.4:c.3532C=	NP_008860.4:p.Arg1178=
XR_001743586.2:n.3631C=
XR_926301.3:n.3548C=
NM_006929.5:c.3532C= MANE Select	NP_008860.4:p.Arg1178=