Canonical Allele Identifier: CA1619384318

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969356A= , CM000668.2:g.31969356A=	GRCh38
NC_000006.11:g.31937133A= , CM000668.1:g.31937133A=	GRCh37
NC_000006.10:g.32045112A=	NCBI36
NG_032652.1:g.15553A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2430A=	ENSP00000419905.1:n.*2430A=
ENST00000483553.6:c.*443A=	ENSP00000420332.2:n.*443A=
ENST00000485349.6:n.3952A=
ENST00000491994.2:c.3476A=	ENSP00000417586.2:p.Glu1159=
ENST00000494058.6:n.3778A=
ENST00000697831.1:c.3407A=	ENSP00000513453.1:p.Glu1136=
ENST00000697832.1:n.3629A=
ENST00000697833.1:c.*424A=	ENSP00000513454.1:n.*424A=
ENST00000697834.1:n.4100A=
ENST00000697835.1:c.*2994A=	ENSP00000513455.1:n.*2994A=
ENST00000697836.1:n.3807A=
ENST00000697837.1:c.*592A=	ENSP00000513456.1:n.*592A=
ENST00000697838.1:c.3341A=	ENSP00000513457.1:p.Glu1114=
ENST00000697839.1:n.4194A=
ENST00000697840.1:c.3512A=	ENSP00000513458.1:p.Glu1171=
ENST00000697841.1:n.4293A=
ENST00000697842.1:n.3731A=
ENST00000375394.7:c.3476A= MANE Select	ENSP00000364543.2:p.Glu1159=
ENST00000375394.6:c.3476A=	ENSP00000364543.2:p.Glu1159=
ENST00000465703.5:n.4112A=
ENST00000470453.1:n.382+40A=
ENST00000471818.1:n.405A=
ENST00000474839.5:c.*2848A=	ENSP00000420470.1:n.*2848A=
ENST00000483553.5:c.912A=
ENST00000485349.5:n.682A=
ENST00000491994.1:c.471A=
NM_006929.4:c.3476A=	NP_008860.4:p.Glu1159=
XR_001743586.2:n.3575A=
XR_926301.3:n.3492A=
NM_006929.5:c.3476A= MANE Select	NP_008860.4:p.Glu1159=