Canonical Allele Identifier: CA1619384311

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969346C= , CM000668.2:g.31969346C=	GRCh38
NC_000006.11:g.31937123C= , CM000668.1:g.31937123C=	GRCh37
NC_000006.10:g.32045102C=	NCBI36
NG_032652.1:g.15543C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2420C=	ENSP00000419905.1:n.*2420C=
ENST00000483553.6:c.*433C=	ENSP00000420332.2:n.*433C=
ENST00000485349.6:n.3942C=
ENST00000491994.2:c.3466C=	ENSP00000417586.2:p.Gln1156=
ENST00000494058.6:n.3768C=
ENST00000697831.1:c.3397C=	ENSP00000513453.1:p.Gln1133=
ENST00000697832.1:n.3619C=
ENST00000697833.1:c.*414C=	ENSP00000513454.1:n.*414C=
ENST00000697834.1:n.4090C=
ENST00000697835.1:c.*2984C=	ENSP00000513455.1:n.*2984C=
ENST00000697836.1:n.3797C=
ENST00000697837.1:c.*582C=	ENSP00000513456.1:n.*582C=
ENST00000697838.1:c.3331C=	ENSP00000513457.1:p.Gln1111=
ENST00000697839.1:n.4184C=
ENST00000697840.1:c.3502C=	ENSP00000513458.1:p.Gln1168=
ENST00000697841.1:n.4283C=
ENST00000697842.1:n.3721C=
ENST00000375394.7:c.3466C= MANE Select	ENSP00000364543.2:p.Gln1156=
ENST00000375394.6:c.3466C=	ENSP00000364543.2:p.Gln1156=
ENST00000465703.5:n.4102C=
ENST00000470453.1:n.382+30C=
ENST00000471818.1:n.395C=
ENST00000474839.5:c.*2838C=	ENSP00000420470.1:n.*2838C=
ENST00000483553.5:c.902C=
ENST00000485349.5:n.672C=
ENST00000491994.1:c.461C=
NM_006929.4:c.3466C=	NP_008860.4:p.Gln1156=
XR_001743586.2:n.3565C=
XR_926301.3:n.3482C=
NM_006929.5:c.3466C= MANE Select	NP_008860.4:p.Gln1156=