Canonical Allele Identifier: CA1619384464

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969709C= , CM000668.2:g.31969709C=	GRCh38
NC_000006.11:g.31937486C= , CM000668.1:g.31937486C=	GRCh37
NC_000006.10:g.32045465C=	NCBI36
NG_032652.1:g.15906C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2783C=	ENSP00000419905.1:n.*2783C=
ENST00000485349.6:n.4211C=
ENST00000491994.2:c.*277C=	ENSP00000417586.2:n.*277C=
ENST00000494058.6:n.4037C=
ENST00000697831.1:c.3666C=	ENSP00000513453.1:p.Thr1222=
ENST00000697832.1:n.3888C=
ENST00000697834.1:n.4453C=
ENST00000697835.1:c.*3253C=	ENSP00000513455.1:n.*3253C=
ENST00000697837.1:c.*851C=	ENSP00000513456.1:n.*851C=
ENST00000697838.1:c.3600C=	ENSP00000513457.1:p.Thr1200=
ENST00000697839.1:n.4547C=
ENST00000697840.1:c.3771C=	ENSP00000513458.1:p.Thr1257=
ENST00000697841.1:n.4646C=
ENST00000697842.1:n.3990C=
ENST00000375394.7:c.3735C= MANE Select	ENSP00000364543.2:p.Thr1245=
ENST00000375394.6:c.3735C=	ENSP00000364543.2:p.Thr1245=
ENST00000465703.5:n.4465C=
ENST00000471818.1:n.664C=
ENST00000474839.5:c.*3107C=	ENSP00000420470.1:n.*3107C=
ENST00000483553.5:c.1265C=
ENST00000491994.1:c.824C=
NM_006929.4:c.3735C=	NP_008860.4:p.Thr1245=
XR_926301.3:n.3751C=
NM_006929.5:c.3735C= MANE Select	NP_008860.4:p.Thr1245=