Canonical Allele Identifier: CA1619384317

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969354G= , CM000668.2:g.31969354G=	GRCh38
NC_000006.11:g.31937131G= , CM000668.1:g.31937131G=	GRCh37
NC_000006.10:g.32045110G=	NCBI36
NG_032652.1:g.15551G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2428G=	ENSP00000419905.1:n.*2428G=
ENST00000483553.6:c.*441G=	ENSP00000420332.2:n.*441G=
ENST00000485349.6:n.3950G=
ENST00000491994.2:c.3474G=	ENSP00000417586.2:p.Val1158=
ENST00000494058.6:n.3776G=
ENST00000697831.1:c.3405G=	ENSP00000513453.1:p.Val1135=
ENST00000697832.1:n.3627G=
ENST00000697833.1:c.*422G=	ENSP00000513454.1:n.*422G=
ENST00000697834.1:n.4098G=
ENST00000697835.1:c.*2992G=	ENSP00000513455.1:n.*2992G=
ENST00000697836.1:n.3805G=
ENST00000697837.1:c.*590G=	ENSP00000513456.1:n.*590G=
ENST00000697838.1:c.3339G=	ENSP00000513457.1:p.Val1113=
ENST00000697839.1:n.4192G=
ENST00000697840.1:c.3510G=	ENSP00000513458.1:p.Val1170=
ENST00000697841.1:n.4291G=
ENST00000697842.1:n.3729G=
ENST00000375394.7:c.3474G= MANE Select	ENSP00000364543.2:p.Val1158=
ENST00000375394.6:c.3474G=	ENSP00000364543.2:p.Val1158=
ENST00000465703.5:n.4110G=
ENST00000470453.1:n.382+38G=
ENST00000471818.1:n.403G=
ENST00000474839.5:c.*2846G=	ENSP00000420470.1:n.*2846G=
ENST00000483553.5:c.910G=
ENST00000485349.5:n.680G=
ENST00000491994.1:c.469G=
NM_006929.4:c.3474G=	NP_008860.4:p.Val1158=
XR_001743586.2:n.3573G=
XR_926301.3:n.3490G=
NM_006929.5:c.3474G= MANE Select	NP_008860.4:p.Val1158=