Canonical Allele Identifier: CA1619377285

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31960225G= , CM000668.2:g.31960225G=	GRCh38
NC_000006.11:g.31928002G= , CM000668.1:g.31928002G=	GRCh37
NC_000006.10:g.32035981G=	NCBI36
NG_032652.1:g.6422G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.242G=	ENSP00000419905.1:p.Trp81=
ENST00000483553.6:c.242G=	ENSP00000420332.2:p.Trp81=
ENST00000485349.6:n.283G=
ENST00000491994.2:c.242G=	ENSP00000417586.2:p.Trp81=
ENST00000494058.6:n.299G=
ENST00000697831.1:c.242G=	ENSP00000513453.1:p.Trp81=
ENST00000697832.1:n.318G=
ENST00000697833.1:c.242G=	ENSP00000513454.1:p.Trp81=
ENST00000697834.1:n.294G=
ENST00000697835.1:c.261G=	ENSP00000513455.1:p.Met87=
ENST00000697836.1:n.278G=
ENST00000697837.1:c.242G=	ENSP00000513456.1:p.Trp81=
ENST00000697838.1:c.107G=	ENSP00000513457.1:p.Trp36=
ENST00000697839.1:n.264G=
ENST00000697840.1:c.242G=	ENSP00000513458.1:p.Trp81=
ENST00000697841.1:n.253G=
ENST00000697842.1:n.242G=
ENST00000375394.7:c.242G= MANE Select	ENSP00000364543.2:p.Trp81=
ENST00000375394.6:c.242G=	ENSP00000364543.2:p.Trp81=
ENST00000461073.5:c.242G=	ENSP00000419905.1:p.Trp81=
ENST00000465703.5:n.294G=
ENST00000474839.5:c.127-816G=	ENSP00000420470.1:n.127-816G=
ENST00000488648.5:n.318G=
ENST00000628157.1:c.127-816G=	ENSP00000485707.1:n.127-816G=
NM_006929.4:c.242G=	NP_008860.4:p.Trp81=
XM_006715168.2:c.242G=	XP_006715231.1:p.Trp81=
XM_011514815.1:c.242G=	XP_011513117.1:p.Trp81=
XR_926301.1:n.330G=
XM_011514815.3:c.242G=	XP_011513117.1:p.Trp81=
XR_001743586.2:n.278G=
XR_926301.3:n.278G=
NM_006929.5:c.242G= MANE Select	NP_008860.4:p.Trp81=