Canonical Allele Identifier: CA1619384373
Gene: SKIC2 HGNC NCBI

Linked Data

dbSNP Id: rs1773040016

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969484G>A , CM000668.2:g.31969484G>A GRCh38
NC_000006.11:g.31937261G>A , CM000668.1:g.31937261G>A GRCh37
NC_000006.10:g.32045240G>A NCBI36
NG_032652.1:g.15681G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2558G>A ENSP00000419905.1:n.*2558G>A
ENST00000483553.6:c.*571G>A ENSP00000420332.2:n.*571G>A
ENST00000485349.6:n.4017-31G>A
ENST00000491994.2:c.*52G>A ENSP00000417586.2:n.*52G>A
ENST00000494058.6:n.3843-31G>A
ENST00000697831.1:c.3472-31G>A ENSP00000513453.1:n.3472-31G>A
ENST00000697832.1:n.3694-31G>A
ENST00000697833.1:c.*489-31G>A ENSP00000513454.1:n.*489-31G>A
ENST00000697834.1:n.4228G>A
ENST00000697835.1:c.*3059-31G>A ENSP00000513455.1:n.*3059-31G>A
ENST00000697836.1:n.3872-8G>A
ENST00000697837.1:c.*657-31G>A ENSP00000513456.1:n.*657-31G>A
ENST00000697838.1:c.3406-31G>A ENSP00000513457.1:n.3406-31G>A
ENST00000697839.1:n.4322G>A
ENST00000697840.1:c.3577-31G>A ENSP00000513458.1:n.3577-31G>A
ENST00000697841.1:n.4421G>A
ENST00000697842.1:n.3796-31G>A
ENST00000375394.7:c.3541-31G>A MANE Select ENSP00000364543.2:n.3541-31G>A
ENST00000375394.6:c.3541-31G>A ENSP00000364543.2:n.3541-31G>A
ENST00000465703.5:n.4240G>A
ENST00000470453.1:n.383-31G>A
ENST00000471818.1:n.470-31G>A
ENST00000474839.5:c.*2913-31G>A ENSP00000420470.1:n.*2913-31G>A
ENST00000483553.5:c.1040G>A
ENST00000491994.1:c.599G>A
NM_006929.4:c.3541-31G>A NP_008860.4:n.3541-31G>A
XR_001743586.2:n.3703G>A
XR_926301.3:n.3557-31G>A
NM_006929.5:c.3541-31G>A MANE Select NP_008860.4:n.3541-31G>A