Canonical Allele Identifier: CA1619384460

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969703C= , CM000668.2:g.31969703C=	GRCh38
NC_000006.11:g.31937480C= , CM000668.1:g.31937480C=	GRCh37
NC_000006.10:g.32045459C=	NCBI36
NG_032652.1:g.15900C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2777C=	ENSP00000419905.1:n.*2777C=
ENST00000485349.6:n.4205C=
ENST00000491994.2:c.*271C=	ENSP00000417586.2:n.*271C=
ENST00000494058.6:n.4031C=
ENST00000697831.1:c.3660C=	ENSP00000513453.1:p.Leu1220=
ENST00000697832.1:n.3882C=
ENST00000697834.1:n.4447C=
ENST00000697835.1:c.*3247C=	ENSP00000513455.1:n.*3247C=
ENST00000697837.1:c.*845C=	ENSP00000513456.1:n.*845C=
ENST00000697838.1:c.3594C=	ENSP00000513457.1:p.Leu1198=
ENST00000697839.1:n.4541C=
ENST00000697840.1:c.3765C=	ENSP00000513458.1:p.Leu1255=
ENST00000697841.1:n.4640C=
ENST00000697842.1:n.3984C=
ENST00000375394.7:c.3729C= MANE Select	ENSP00000364543.2:p.Leu1243=
ENST00000375394.6:c.3729C=	ENSP00000364543.2:p.Leu1243=
ENST00000465703.5:n.4459C=
ENST00000471818.1:n.658C=
ENST00000474839.5:c.*3101C=	ENSP00000420470.1:n.*3101C=
ENST00000483553.5:c.1259C=
ENST00000491994.1:c.818C=
NM_006929.4:c.3729C=	NP_008860.4:p.Leu1243=
XR_926301.3:n.3745C=
NM_006929.5:c.3729C= MANE Select	NP_008860.4:p.Leu1243=