Canonical Allele Identifier: CA3730095

Gene: SKIC2

Linked Data

• ClinVar Variation Id: 1428392
• ClinVar RCV Id: RCV001964865
• dbSNP Id: rs773464401
• ExAC: 6:31937343 C / T
• gnomAD v2: 6-31937343-C-T
• gnomAD v3: 6-31969566-C-T
• gnomAD v4: 6-31969566-C-T
• COSMIC: COSM303209
• MyVariant Identifiers: chr6:g.31937343C>T (hg19) ; chr6:g.31969566C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969566C>T , CM000668.2:g.31969566C>T	GRCh38
NC_000006.11:g.31937343C>T , CM000668.1:g.31937343C>T	GRCh37
NC_000006.10:g.32045322C>T	NCBI36
NG_032652.1:g.15763C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2640C>T	ENSP00000419905.1:n.*2640C>T
ENST00000485349.6:n.4068C>T
ENST00000491994.2:c.*134C>T	ENSP00000417586.2:n.*134C>T
ENST00000494058.6:n.3894C>T
ENST00000697831.1:c.3523C>T	ENSP00000513453.1:p.Arg1175Cys
ENST00000697832.1:n.3745C>T
ENST00000697833.1:c.*540C>T	ENSP00000513454.1:n.*540C>T
ENST00000697834.1:n.4310C>T
ENST00000697835.1:c.*3110C>T	ENSP00000513455.1:n.*3110C>T
ENST00000697836.1:n.3946C>T
ENST00000697837.1:c.*708C>T	ENSP00000513456.1:n.*708C>T
ENST00000697838.1:c.3457C>T	ENSP00000513457.1:p.Arg1153Cys
ENST00000697839.1:n.4404C>T
ENST00000697840.1:c.3628C>T	ENSP00000513458.1:p.Arg1210Cys
ENST00000697841.1:n.4503C>T
ENST00000697842.1:n.3847C>T
ENST00000375394.7:c.3592C>T MANE Select	ENSP00000364543.2:p.Arg1198Cys
ENST00000375394.6:c.3592C>T	ENSP00000364543.2:p.Arg1198Cys
ENST00000465703.5:n.4322C>T
ENST00000470453.1:n.434C>T
ENST00000471818.1:n.521C>T
ENST00000474839.5:c.*2964C>T	ENSP00000420470.1:n.*2964C>T
ENST00000483553.5:c.1122C>T
ENST00000491994.1:c.681C>T
NM_006929.4:c.3592C>T	NP_008860.4:p.Arg1198Cys
XR_926301.3:n.3608C>T
NM_006929.5:c.3592C>T MANE Select	NP_008860.4:p.Arg1198Cys