Canonical Allele Identifier: CA1619384410

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969602C= , CM000668.2:g.31969602C=	GRCh38
NC_000006.11:g.31937379C= , CM000668.1:g.31937379C=	GRCh37
NC_000006.10:g.32045358C=	NCBI36
NG_032652.1:g.15799C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2676C=	ENSP00000419905.1:n.*2676C=
ENST00000485349.6:n.4104C=
ENST00000491994.2:c.*170C=	ENSP00000417586.2:n.*170C=
ENST00000494058.6:n.3930C=
ENST00000697831.1:c.3559C=	ENSP00000513453.1:p.Leu1187=
ENST00000697832.1:n.3781C=
ENST00000697834.1:n.4346C=
ENST00000697835.1:c.*3146C=	ENSP00000513455.1:n.*3146C=
ENST00000697836.1:n.3982C=
ENST00000697837.1:c.*744C=	ENSP00000513456.1:n.*744C=
ENST00000697838.1:c.3493C=	ENSP00000513457.1:p.Leu1165=
ENST00000697839.1:n.4440C=
ENST00000697840.1:c.3664C=	ENSP00000513458.1:p.Leu1222=
ENST00000697841.1:n.4539C=
ENST00000697842.1:n.3883C=
ENST00000375394.7:c.3628C= MANE Select	ENSP00000364543.2:p.Leu1210=
ENST00000375394.6:c.3628C=	ENSP00000364543.2:p.Leu1210=
ENST00000465703.5:n.4358C=
ENST00000471818.1:n.557C=
ENST00000474839.5:c.*3000C=	ENSP00000420470.1:n.*3000C=
ENST00000483553.5:c.1158C=
ENST00000491994.1:c.717C=
NM_006929.4:c.3628C=	NP_008860.4:p.Leu1210=
XR_926301.3:n.3644C=
NM_006929.5:c.3628C= MANE Select	NP_008860.4:p.Leu1210=