Canonical Allele Identifier: CA1619377337

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31960253T= , CM000668.2:g.31960253T=	GRCh38
NC_000006.11:g.31928030T= , CM000668.1:g.31928030T=	GRCh37
NC_000006.10:g.32036009T=	NCBI36
NG_032652.1:g.6450T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.270T=	ENSP00000419905.1:p.Leu90=
ENST00000483553.6:c.270T=	ENSP00000420332.2:p.Leu90=
ENST00000485349.6:n.311T=
ENST00000491994.2:c.270T=	ENSP00000417586.2:p.Leu90=
ENST00000494058.6:n.327T=
ENST00000697831.1:c.270T=	ENSP00000513453.1:p.Leu90=
ENST00000697832.1:n.346T=
ENST00000697833.1:c.270T=	ENSP00000513454.1:p.Leu90=
ENST00000697834.1:n.322T=
ENST00000697835.1:c.289T=	ENSP00000513455.1:p.Phe97=
ENST00000697836.1:n.306T=
ENST00000697837.1:c.270T=	ENSP00000513456.1:p.Leu90=
ENST00000697838.1:c.135T=	ENSP00000513457.1:p.Leu45=
ENST00000697839.1:n.292T=
ENST00000697840.1:c.270T=	ENSP00000513458.1:p.Leu90=
ENST00000697841.1:n.281T=
ENST00000697842.1:n.270T=
ENST00000375394.7:c.270T= MANE Select	ENSP00000364543.2:p.Leu90=
ENST00000375394.6:c.270T=	ENSP00000364543.2:p.Leu90=
ENST00000461073.5:c.270T=	ENSP00000419905.1:p.Leu90=
ENST00000465703.5:n.322T=
ENST00000474839.5:c.127-788T=	ENSP00000420470.1:n.127-788T=
ENST00000488648.5:n.346T=
ENST00000628157.1:c.127-788T=	ENSP00000485707.1:n.127-788T=
NM_006929.4:c.270T=	NP_008860.4:p.Leu90=
XM_006715168.2:c.270T=	XP_006715231.1:p.Leu90=
XM_011514815.1:c.270T=	XP_011513117.1:p.Leu90=
XR_926301.1:n.358T=
XM_011514815.3:c.270T=	XP_011513117.1:p.Leu90=
XR_001743586.2:n.306T=
XR_926301.3:n.306T=
NM_006929.5:c.270T= MANE Select	NP_008860.4:p.Leu90=