Canonical Allele Identifier: CA363491050

Gene: SKIC2

Linked Data

• COSMIC: COSM3994853 ; COSM3994854
• MyVariant Identifiers: chr6:g.31937328G>A (hg19) ; chr6:g.31969551G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969551G>A , CM000668.2:g.31969551G>A	GRCh38
NC_000006.11:g.31937328G>A , CM000668.1:g.31937328G>A	GRCh37
NC_000006.10:g.32045307G>A	NCBI36
NG_032652.1:g.15748G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2625G>A	ENSP00000419905.1:n.*2625G>A
ENST00000485349.6:n.4053G>A
ENST00000491994.2:c.*119G>A	ENSP00000417586.2:n.*119G>A
ENST00000494058.6:n.3879G>A
ENST00000697831.1:c.3508G>A	ENSP00000513453.1:p.Glu1170Lys
ENST00000697832.1:n.3730G>A
ENST00000697833.1:c.*525G>A	ENSP00000513454.1:n.*525G>A
ENST00000697834.1:n.4295G>A
ENST00000697835.1:c.*3095G>A	ENSP00000513455.1:n.*3095G>A
ENST00000697836.1:n.3931G>A
ENST00000697837.1:c.*693G>A	ENSP00000513456.1:n.*693G>A
ENST00000697838.1:c.3442G>A	ENSP00000513457.1:p.Glu1148Lys
ENST00000697839.1:n.4389G>A
ENST00000697840.1:c.3613G>A	ENSP00000513458.1:p.Glu1205Lys
ENST00000697841.1:n.4488G>A
ENST00000697842.1:n.3832G>A
ENST00000375394.7:c.3577G>A MANE Select	ENSP00000364543.2:p.Glu1193Lys
ENST00000375394.6:c.3577G>A	ENSP00000364543.2:p.Glu1193Lys
ENST00000465703.5:n.4307G>A
ENST00000470453.1:n.419G>A
ENST00000471818.1:n.506G>A
ENST00000474839.5:c.*2949G>A	ENSP00000420470.1:n.*2949G>A
ENST00000483553.5:c.1107G>A
ENST00000491994.1:c.666G>A
NM_006929.4:c.3577G>A	NP_008860.4:p.Glu1193Lys
XR_926301.3:n.3593G>A
NM_006929.5:c.3577G>A MANE Select	NP_008860.4:p.Glu1193Lys