Canonical Allele Identifier: CA363492611
Gene: SKIC2 HGNC NCBI

Linked Data

dbSNP Id: rs1303923072

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969708C>G , CM000668.2:g.31969708C>G GRCh38
NC_000006.11:g.31937485C>G , CM000668.1:g.31937485C>G GRCh37
NC_000006.10:g.32045464C>G NCBI36
NG_032652.1:g.15905C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2782C>G ENSP00000419905.1:n.*2782C>G
ENST00000485349.6:n.4210C>G
ENST00000491994.2:c.*276C>G ENSP00000417586.2:n.*276C>G
ENST00000494058.6:n.4036C>G
ENST00000697831.1:c.3665C>G ENSP00000513453.1:p.Thr1222Ser
ENST00000697832.1:n.3887C>G
ENST00000697834.1:n.4452C>G
ENST00000697835.1:c.*3252C>G ENSP00000513455.1:n.*3252C>G
ENST00000697837.1:c.*850C>G ENSP00000513456.1:n.*850C>G
ENST00000697838.1:c.3599C>G ENSP00000513457.1:p.Thr1200Ser
ENST00000697839.1:n.4546C>G
ENST00000697840.1:c.3770C>G ENSP00000513458.1:p.Thr1257Ser
ENST00000697841.1:n.4645C>G
ENST00000697842.1:n.3989C>G
ENST00000375394.7:c.3734C>G MANE Select ENSP00000364543.2:p.Thr1245Ser
ENST00000375394.6:c.3734C>G ENSP00000364543.2:p.Thr1245Ser
ENST00000465703.5:n.4464C>G
ENST00000471818.1:n.663C>G
ENST00000474839.5:c.*3106C>G ENSP00000420470.1:n.*3106C>G
ENST00000483553.5:c.1264C>G
ENST00000491994.1:c.823C>G
NM_006929.4:c.3734C>G NP_008860.4:p.Thr1245Ser
XR_926301.3:n.3750C>G
NM_006929.5:c.3734C>G MANE Select NP_008860.4:p.Thr1245Ser