Canonical Allele Identifier: CA2770525555

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969504T>G , CM000668.2:g.31969504T>G	GRCh38
NC_000006.11:g.31937281T>G , CM000668.1:g.31937281T>G	GRCh37
NC_000006.10:g.32045260T>G	NCBI36
NG_032652.1:g.15701T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2578T>G	ENSP00000419905.1:n.*2578T>G
ENST00000485349.6:n.4017-11T>G
ENST00000491994.2:c.*72T>G	ENSP00000417586.2:n.*72T>G
ENST00000494058.6:n.3843-11T>G
ENST00000697831.1:c.3472-11T>G	ENSP00000513453.1:n.3472-11T>G
ENST00000697832.1:n.3694-11T>G
ENST00000697833.1:c.*489-11T>G	ENSP00000513454.1:n.*489-11T>G
ENST00000697834.1:n.4248T>G
ENST00000697835.1:c.*3059-11T>G	ENSP00000513455.1:n.*3059-11T>G
ENST00000697836.1:n.3884T>G
ENST00000697837.1:c.*657-11T>G	ENSP00000513456.1:n.*657-11T>G
ENST00000697838.1:c.3406-11T>G	ENSP00000513457.1:n.3406-11T>G
ENST00000697839.1:n.4342T>G
ENST00000697840.1:c.3577-11T>G	ENSP00000513458.1:n.3577-11T>G
ENST00000697841.1:n.4441T>G
ENST00000697842.1:n.3796-11T>G
ENST00000375394.7:c.3541-11T>G MANE Select	ENSP00000364543.2:n.3541-11T>G
ENST00000375394.6:c.3541-11T>G	ENSP00000364543.2:n.3541-11T>G
ENST00000465703.5:n.4260T>G
ENST00000470453.1:n.383-11T>G
ENST00000471818.1:n.470-11T>G
ENST00000474839.5:c.*2913-11T>G	ENSP00000420470.1:n.*2913-11T>G
ENST00000483553.5:c.1060T>G
ENST00000491994.1:c.619T>G
NM_006929.4:c.3541-11T>G	NP_008860.4:n.3541-11T>G
XR_926301.3:n.3557-11T>G
NM_006929.5:c.3541-11T>G MANE Select	NP_008860.4:n.3541-11T>G