Canonical Allele Identifier: CA1619384339

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969410C= , CM000668.2:g.31969410C=	GRCh38
NC_000006.11:g.31937187C= , CM000668.1:g.31937187C=	GRCh37
NC_000006.10:g.32045166C=	NCBI36
NG_032652.1:g.15607C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2484C=	ENSP00000419905.1:n.*2484C=
ENST00000483553.6:c.*497C=	ENSP00000420332.2:n.*497C=
ENST00000485349.6:n.4006C=
ENST00000491994.2:c.3530C=	ENSP00000417586.2:p.Ala1177=
ENST00000494058.6:n.3832C=
ENST00000697831.1:c.3461C=	ENSP00000513453.1:p.Ala1154=
ENST00000697832.1:n.3683C=
ENST00000697833.1:c.*478C=	ENSP00000513454.1:n.*478C=
ENST00000697834.1:n.4154C=
ENST00000697835.1:c.*3048C=	ENSP00000513455.1:n.*3048C=
ENST00000697836.1:n.3861C=
ENST00000697837.1:c.*646C=	ENSP00000513456.1:n.*646C=
ENST00000697838.1:c.3395C=	ENSP00000513457.1:p.Ala1132=
ENST00000697839.1:n.4248C=
ENST00000697840.1:c.3566C=	ENSP00000513458.1:p.Ala1189=
ENST00000697841.1:n.4347C=
ENST00000697842.1:n.3785C=
ENST00000375394.7:c.3530C= MANE Select	ENSP00000364543.2:p.Ala1177=
ENST00000375394.6:c.3530C=	ENSP00000364543.2:p.Ala1177=
ENST00000465703.5:n.4166C=
ENST00000470453.1:n.382+94C=
ENST00000471818.1:n.459C=
ENST00000474839.5:c.*2902C=	ENSP00000420470.1:n.*2902C=
ENST00000483553.5:c.966C=
ENST00000491994.1:c.525C=
NM_006929.4:c.3530C=	NP_008860.4:p.Ala1177=
XR_001743586.2:n.3629C=
XR_926301.3:n.3546C=
NM_006929.5:c.3530C= MANE Select	NP_008860.4:p.Ala1177=