Canonical Allele Identifier: CA363491059

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937329A>C (hg19) ; chr6:g.31969552A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969552A>C , CM000668.2:g.31969552A>C	GRCh38
NC_000006.11:g.31937329A>C , CM000668.1:g.31937329A>C	GRCh37
NC_000006.10:g.32045308A>C	NCBI36
NG_032652.1:g.15749A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2626A>C	ENSP00000419905.1:n.*2626A>C
ENST00000485349.6:n.4054A>C
ENST00000491994.2:c.*120A>C	ENSP00000417586.2:n.*120A>C
ENST00000494058.6:n.3880A>C
ENST00000697831.1:c.3509A>C	ENSP00000513453.1:p.Glu1170Ala
ENST00000697832.1:n.3731A>C
ENST00000697833.1:c.*526A>C	ENSP00000513454.1:n.*526A>C
ENST00000697834.1:n.4296A>C
ENST00000697835.1:c.*3096A>C	ENSP00000513455.1:n.*3096A>C
ENST00000697836.1:n.3932A>C
ENST00000697837.1:c.*694A>C	ENSP00000513456.1:n.*694A>C
ENST00000697838.1:c.3443A>C	ENSP00000513457.1:p.Glu1148Ala
ENST00000697839.1:n.4390A>C
ENST00000697840.1:c.3614A>C	ENSP00000513458.1:p.Glu1205Ala
ENST00000697841.1:n.4489A>C
ENST00000697842.1:n.3833A>C
ENST00000375394.7:c.3578A>C MANE Select	ENSP00000364543.2:p.Glu1193Ala
ENST00000375394.6:c.3578A>C	ENSP00000364543.2:p.Glu1193Ala
ENST00000465703.5:n.4308A>C
ENST00000470453.1:n.420A>C
ENST00000471818.1:n.507A>C
ENST00000474839.5:c.*2950A>C	ENSP00000420470.1:n.*2950A>C
ENST00000483553.5:c.1108A>C
ENST00000491994.1:c.667A>C
NM_006929.4:c.3578A>C	NP_008860.4:p.Glu1193Ala
XR_926301.3:n.3594A>C
NM_006929.5:c.3578A>C MANE Select	NP_008860.4:p.Glu1193Ala