Canonical Allele Identifier: CA1619384329

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969386T= , CM000668.2:g.31969386T=	GRCh38
NC_000006.11:g.31937163T= , CM000668.1:g.31937163T=	GRCh37
NC_000006.10:g.32045142T=	NCBI36
NG_032652.1:g.15583T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2460T=	ENSP00000419905.1:n.*2460T=
ENST00000483553.6:c.*473T=	ENSP00000420332.2:n.*473T=
ENST00000485349.6:n.3982T=
ENST00000491994.2:c.3506T=	ENSP00000417586.2:p.Leu1169=
ENST00000494058.6:n.3808T=
ENST00000697831.1:c.3437T=	ENSP00000513453.1:p.Leu1146=
ENST00000697832.1:n.3659T=
ENST00000697833.1:c.*454T=	ENSP00000513454.1:n.*454T=
ENST00000697834.1:n.4130T=
ENST00000697835.1:c.*3024T=	ENSP00000513455.1:n.*3024T=
ENST00000697836.1:n.3837T=
ENST00000697837.1:c.*622T=	ENSP00000513456.1:n.*622T=
ENST00000697838.1:c.3371T=	ENSP00000513457.1:p.Leu1124=
ENST00000697839.1:n.4224T=
ENST00000697840.1:c.3542T=	ENSP00000513458.1:p.Leu1181=
ENST00000697841.1:n.4323T=
ENST00000697842.1:n.3761T=
ENST00000375394.7:c.3506T= MANE Select	ENSP00000364543.2:p.Leu1169=
ENST00000375394.6:c.3506T=	ENSP00000364543.2:p.Leu1169=
ENST00000465703.5:n.4142T=
ENST00000470453.1:n.382+70T=
ENST00000471818.1:n.435T=
ENST00000474839.5:c.*2878T=	ENSP00000420470.1:n.*2878T=
ENST00000483553.5:c.942T=
ENST00000485349.5:n.712T=
ENST00000491994.1:c.501T=
NM_006929.4:c.3506T=	NP_008860.4:p.Leu1169=
XR_001743586.2:n.3605T=
XR_926301.3:n.3522T=
NM_006929.5:c.3506T= MANE Select	NP_008860.4:p.Leu1169=