Canonical Allele Identifier: CA363492640

Gene: SKIC2

Linked Data

• dbSNP Id: rs1773067505
• COSMIC: COSM3347496 ; COSM3347497
• MyVariant Identifiers: chr6:g.31937487C>A (hg19) ; chr6:g.31969710C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969710C>A , CM000668.2:g.31969710C>A	GRCh38
NC_000006.11:g.31937487C>A , CM000668.1:g.31937487C>A	GRCh37
NC_000006.10:g.32045466C>A	NCBI36
NG_032652.1:g.15907C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2784C>A	ENSP00000419905.1:n.*2784C>A
ENST00000485349.6:n.4212C>A
ENST00000491994.2:c.*278C>A	ENSP00000417586.2:n.*278C>A
ENST00000494058.6:n.4038C>A
ENST00000697831.1:c.3667C>A	ENSP00000513453.1:p.Gln1223Lys
ENST00000697832.1:n.3889C>A
ENST00000697834.1:n.4454C>A
ENST00000697835.1:c.*3254C>A	ENSP00000513455.1:n.*3254C>A
ENST00000697837.1:c.*852C>A	ENSP00000513456.1:n.*852C>A
ENST00000697838.1:c.3601C>A	ENSP00000513457.1:p.Gln1201Lys
ENST00000697839.1:n.4548C>A
ENST00000697840.1:c.3772C>A	ENSP00000513458.1:p.Gln1258Lys
ENST00000697841.1:n.4647C>A
ENST00000697842.1:n.3991C>A
ENST00000375394.7:c.3736C>A MANE Select	ENSP00000364543.2:p.Gln1246Lys
ENST00000375394.6:c.3736C>A	ENSP00000364543.2:p.Gln1246Lys
ENST00000465703.5:n.4466C>A
ENST00000471818.1:n.665C>A
ENST00000474839.5:c.*3108C>A	ENSP00000420470.1:n.*3108C>A
ENST00000483553.5:c.1266C>A
ENST00000491994.1:c.825C>A
NM_006929.4:c.3736C>A	NP_008860.4:p.Gln1246Lys
XR_926301.3:n.3752C>A
NM_006929.5:c.3736C>A MANE Select	NP_008860.4:p.Gln1246Lys