Canonical Allele Identifier: CA1619384343

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969414G= , CM000668.2:g.31969414G=	GRCh38
NC_000006.11:g.31937191G= , CM000668.1:g.31937191G=	GRCh37
NC_000006.10:g.32045170G=	NCBI36
NG_032652.1:g.15611G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2488G=	ENSP00000419905.1:n.*2488G=
ENST00000483553.6:c.*501G=	ENSP00000420332.2:n.*501G=
ENST00000485349.6:n.4010G=
ENST00000491994.2:c.3534G=	ENSP00000417586.2:p.Arg1178=
ENST00000494058.6:n.3836G=
ENST00000697831.1:c.3465G=	ENSP00000513453.1:p.Arg1155=
ENST00000697832.1:n.3687G=
ENST00000697833.1:c.*482G=	ENSP00000513454.1:n.*482G=
ENST00000697834.1:n.4158G=
ENST00000697835.1:c.*3052G=	ENSP00000513455.1:n.*3052G=
ENST00000697836.1:n.3865G=
ENST00000697837.1:c.*650G=	ENSP00000513456.1:n.*650G=
ENST00000697838.1:c.3399G=	ENSP00000513457.1:p.Arg1133=
ENST00000697839.1:n.4252G=
ENST00000697840.1:c.3570G=	ENSP00000513458.1:p.Arg1190=
ENST00000697841.1:n.4351G=
ENST00000697842.1:n.3789G=
ENST00000375394.7:c.3534G= MANE Select	ENSP00000364543.2:p.Arg1178=
ENST00000375394.6:c.3534G=	ENSP00000364543.2:p.Arg1178=
ENST00000465703.5:n.4170G=
ENST00000470453.1:n.382+98G=
ENST00000471818.1:n.463G=
ENST00000474839.5:c.*2906G=	ENSP00000420470.1:n.*2906G=
ENST00000483553.5:c.970G=
ENST00000491994.1:c.529G=
NM_006929.4:c.3534G=	NP_008860.4:p.Arg1178=
XR_001743586.2:n.3633G=
XR_926301.3:n.3550G=
NM_006929.5:c.3534G= MANE Select	NP_008860.4:p.Arg1178=