Canonical Allele Identifier: CA1619384319

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969357G= , CM000668.2:g.31969357G=	GRCh38
NC_000006.11:g.31937134G= , CM000668.1:g.31937134G=	GRCh37
NC_000006.10:g.32045113G=	NCBI36
NG_032652.1:g.15554G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2431G=	ENSP00000419905.1:n.*2431G=
ENST00000483553.6:c.*444G=	ENSP00000420332.2:n.*444G=
ENST00000485349.6:n.3953G=
ENST00000491994.2:c.3477G=	ENSP00000417586.2:p.Glu1159=
ENST00000494058.6:n.3779G=
ENST00000697831.1:c.3408G=	ENSP00000513453.1:p.Glu1136=
ENST00000697832.1:n.3630G=
ENST00000697833.1:c.*425G=	ENSP00000513454.1:n.*425G=
ENST00000697834.1:n.4101G=
ENST00000697835.1:c.*2995G=	ENSP00000513455.1:n.*2995G=
ENST00000697836.1:n.3808G=
ENST00000697837.1:c.*593G=	ENSP00000513456.1:n.*593G=
ENST00000697838.1:c.3342G=	ENSP00000513457.1:p.Glu1114=
ENST00000697839.1:n.4195G=
ENST00000697840.1:c.3513G=	ENSP00000513458.1:p.Glu1171=
ENST00000697841.1:n.4294G=
ENST00000697842.1:n.3732G=
ENST00000375394.7:c.3477G= MANE Select	ENSP00000364543.2:p.Glu1159=
ENST00000375394.6:c.3477G=	ENSP00000364543.2:p.Glu1159=
ENST00000465703.5:n.4113G=
ENST00000470453.1:n.382+41G=
ENST00000471818.1:n.406G=
ENST00000474839.5:c.*2849G=	ENSP00000420470.1:n.*2849G=
ENST00000483553.5:c.913G=
ENST00000485349.5:n.683G=
ENST00000491994.1:c.472G=
NM_006929.4:c.3477G=	NP_008860.4:p.Glu1159=
XR_001743586.2:n.3576G=
XR_926301.3:n.3493G=
NM_006929.5:c.3477G= MANE Select	NP_008860.4:p.Glu1159=