Canonical Allele Identifier: CA1619384316

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969352G= , CM000668.2:g.31969352G=	GRCh38
NC_000006.11:g.31937129G= , CM000668.1:g.31937129G=	GRCh37
NC_000006.10:g.32045108G=	NCBI36
NG_032652.1:g.15549G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2426G=	ENSP00000419905.1:n.*2426G=
ENST00000483553.6:c.*439G=	ENSP00000420332.2:n.*439G=
ENST00000485349.6:n.3948G=
ENST00000491994.2:c.3472G=	ENSP00000417586.2:p.Val1158=
ENST00000494058.6:n.3774G=
ENST00000697831.1:c.3403G=	ENSP00000513453.1:p.Val1135=
ENST00000697832.1:n.3625G=
ENST00000697833.1:c.*420G=	ENSP00000513454.1:n.*420G=
ENST00000697834.1:n.4096G=
ENST00000697835.1:c.*2990G=	ENSP00000513455.1:n.*2990G=
ENST00000697836.1:n.3803G=
ENST00000697837.1:c.*588G=	ENSP00000513456.1:n.*588G=
ENST00000697838.1:c.3337G=	ENSP00000513457.1:p.Val1113=
ENST00000697839.1:n.4190G=
ENST00000697840.1:c.3508G=	ENSP00000513458.1:p.Val1170=
ENST00000697841.1:n.4289G=
ENST00000697842.1:n.3727G=
ENST00000375394.7:c.3472G= MANE Select	ENSP00000364543.2:p.Val1158=
ENST00000375394.6:c.3472G=	ENSP00000364543.2:p.Val1158=
ENST00000465703.5:n.4108G=
ENST00000470453.1:n.382+36G=
ENST00000471818.1:n.401G=
ENST00000474839.5:c.*2844G=	ENSP00000420470.1:n.*2844G=
ENST00000483553.5:c.908G=
ENST00000485349.5:n.678G=
ENST00000491994.1:c.467G=
NM_006929.4:c.3472G=	NP_008860.4:p.Val1158=
XR_001743586.2:n.3571G=
XR_926301.3:n.3488G=
NM_006929.5:c.3472G= MANE Select	NP_008860.4:p.Val1158=