Canonical Allele Identifier: CA3730070
Gene: SKIC2 HGNC NCBI

Linked Data

dbSNP Id: rs139750092
gnomAD v2: 6-31937138-T-C
gnomAD v3: 6-31969361-T-C
gnomAD v4: 6-31969361-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969361T>C , CM000668.2:g.31969361T>C GRCh38
NC_000006.11:g.31937138T>C , CM000668.1:g.31937138T>C GRCh37
NC_000006.10:g.32045117T>C NCBI36
NG_032652.1:g.15558T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2435T>C ENSP00000419905.1:n.*2435T>C
ENST00000483553.6:c.*448T>C ENSP00000420332.2:n.*448T>C
ENST00000485349.6:n.3957T>C
ENST00000491994.2:c.3481T>C ENSP00000417586.2:p.Phe1161Leu
ENST00000494058.6:n.3783T>C
ENST00000697831.1:c.3412T>C ENSP00000513453.1:p.Phe1138Leu
ENST00000697832.1:n.3634T>C
ENST00000697833.1:c.*429T>C ENSP00000513454.1:n.*429T>C
ENST00000697834.1:n.4105T>C
ENST00000697835.1:c.*2999T>C ENSP00000513455.1:n.*2999T>C
ENST00000697836.1:n.3812T>C
ENST00000697837.1:c.*597T>C ENSP00000513456.1:n.*597T>C
ENST00000697838.1:c.3346T>C ENSP00000513457.1:p.Phe1116Leu
ENST00000697839.1:n.4199T>C
ENST00000697840.1:c.3517T>C ENSP00000513458.1:p.Phe1173Leu
ENST00000697841.1:n.4298T>C
ENST00000697842.1:n.3736T>C
ENST00000375394.7:c.3481T>C MANE Select ENSP00000364543.2:p.Phe1161Leu
ENST00000375394.6:c.3481T>C ENSP00000364543.2:p.Phe1161Leu
ENST00000465703.5:n.4117T>C
ENST00000470453.1:n.382+45T>C
ENST00000471818.1:n.410T>C
ENST00000474839.5:c.*2853T>C ENSP00000420470.1:n.*2853T>C
ENST00000483553.5:c.917T>C
ENST00000485349.5:n.687T>C
ENST00000491994.1:c.476T>C
NM_006929.4:c.3481T>C NP_008860.4:p.Phe1161Leu
XR_001743586.2:n.3580T>C
XR_926301.3:n.3497T>C
NM_006929.5:c.3481T>C MANE Select NP_008860.4:p.Phe1161Leu