Canonical Allele Identifier: CA1619384309

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969340C= , CM000668.2:g.31969340C=	GRCh38
NC_000006.11:g.31937117C= , CM000668.1:g.31937117C=	GRCh37
NC_000006.10:g.32045096C=	NCBI36
NG_032652.1:g.15537C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2414C=	ENSP00000419905.1:n.*2414C=
ENST00000483553.6:c.*427C=	ENSP00000420332.2:n.*427C=
ENST00000485349.6:n.3936C=
ENST00000491994.2:c.3460C=	ENSP00000417586.2:p.Leu1154=
ENST00000494058.6:n.3762C=
ENST00000697831.1:c.3391C=	ENSP00000513453.1:p.Leu1131=
ENST00000697832.1:n.3613C=
ENST00000697833.1:c.*408C=	ENSP00000513454.1:n.*408C=
ENST00000697834.1:n.4084C=
ENST00000697835.1:c.*2978C=	ENSP00000513455.1:n.*2978C=
ENST00000697836.1:n.3791C=
ENST00000697837.1:c.*576C=	ENSP00000513456.1:n.*576C=
ENST00000697838.1:c.3325C=	ENSP00000513457.1:p.Leu1109=
ENST00000697839.1:n.4178C=
ENST00000697840.1:c.3496C=	ENSP00000513458.1:p.Leu1166=
ENST00000697841.1:n.4277C=
ENST00000697842.1:n.3715C=
ENST00000375394.7:c.3460C= MANE Select	ENSP00000364543.2:p.Leu1154=
ENST00000375394.6:c.3460C=	ENSP00000364543.2:p.Leu1154=
ENST00000465703.5:n.4096C=
ENST00000470453.1:n.382+24C=
ENST00000471818.1:n.389C=
ENST00000474839.5:c.*2832C=	ENSP00000420470.1:n.*2832C=
ENST00000483553.5:c.896C=
ENST00000485349.5:n.666C=
ENST00000491994.1:c.455C=
NM_006929.4:c.3460C=	NP_008860.4:p.Leu1154=
XR_001743586.2:n.3559C=
XR_926301.3:n.3476C=
NM_006929.5:c.3460C= MANE Select	NP_008860.4:p.Leu1154=