Canonical Allele Identifier: CA363490412

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937192G>C (hg19) ; chr6:g.31969415G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969415G>C , CM000668.2:g.31969415G>C	GRCh38
NC_000006.11:g.31937192G>C , CM000668.1:g.31937192G>C	GRCh37
NC_000006.10:g.32045171G>C	NCBI36
NG_032652.1:g.15612G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2489G>C	ENSP00000419905.1:n.*2489G>C
ENST00000483553.6:c.*502G>C	ENSP00000420332.2:n.*502G>C
ENST00000485349.6:n.4011G>C
ENST00000491994.2:c.3535G>C	ENSP00000417586.2:p.Gly1179Arg
ENST00000494058.6:n.3837G>C
ENST00000697831.1:c.3466G>C	ENSP00000513453.1:p.Gly1156Arg
ENST00000697832.1:n.3688G>C
ENST00000697833.1:c.*483G>C	ENSP00000513454.1:n.*483G>C
ENST00000697834.1:n.4159G>C
ENST00000697835.1:c.*3053G>C	ENSP00000513455.1:n.*3053G>C
ENST00000697836.1:n.3866G>C
ENST00000697837.1:c.*651G>C	ENSP00000513456.1:n.*651G>C
ENST00000697838.1:c.3400G>C	ENSP00000513457.1:p.Gly1134Arg
ENST00000697839.1:n.4253G>C
ENST00000697840.1:c.3571G>C	ENSP00000513458.1:p.Gly1191Arg
ENST00000697841.1:n.4352G>C
ENST00000697842.1:n.3790G>C
ENST00000375394.7:c.3535G>C MANE Select	ENSP00000364543.2:p.Gly1179Arg
ENST00000375394.6:c.3535G>C	ENSP00000364543.2:p.Gly1179Arg
ENST00000465703.5:n.4171G>C
ENST00000470453.1:n.383-100G>C
ENST00000471818.1:n.464G>C
ENST00000474839.5:c.*2907G>C	ENSP00000420470.1:n.*2907G>C
ENST00000483553.5:c.971G>C
ENST00000491994.1:c.530G>C
NM_006929.4:c.3535G>C	NP_008860.4:p.Gly1179Arg
XR_001743586.2:n.3634G>C
XR_926301.3:n.3551G>C
NM_006929.5:c.3535G>C MANE Select	NP_008860.4:p.Gly1179Arg