Canonical Allele Identifier: CA2678078848

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969507-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969507C>A , CM000668.2:g.31969507C>A	GRCh38
NC_000006.11:g.31937284C>A , CM000668.1:g.31937284C>A	GRCh37
NC_000006.10:g.32045263C>A	NCBI36
NG_032652.1:g.15704C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2581C>A	ENSP00000419905.1:n.*2581C>A
ENST00000485349.6:n.4017-8C>A
ENST00000491994.2:c.*75C>A	ENSP00000417586.2:n.*75C>A
ENST00000494058.6:n.3843-8C>A
ENST00000697831.1:c.3472-8C>A	ENSP00000513453.1:n.3472-8C>A
ENST00000697832.1:n.3694-8C>A
ENST00000697833.1:c.*489-8C>A	ENSP00000513454.1:n.*489-8C>A
ENST00000697834.1:n.4251C>A
ENST00000697835.1:c.*3059-8C>A	ENSP00000513455.1:n.*3059-8C>A
ENST00000697836.1:n.3887C>A
ENST00000697837.1:c.*657-8C>A	ENSP00000513456.1:n.*657-8C>A
ENST00000697838.1:c.3406-8C>A	ENSP00000513457.1:n.3406-8C>A
ENST00000697839.1:n.4345C>A
ENST00000697840.1:c.3577-8C>A	ENSP00000513458.1:n.3577-8C>A
ENST00000697841.1:n.4444C>A
ENST00000697842.1:n.3796-8C>A
ENST00000375394.7:c.3541-8C>A MANE Select	ENSP00000364543.2:n.3541-8C>A
ENST00000375394.6:c.3541-8C>A	ENSP00000364543.2:n.3541-8C>A
ENST00000465703.5:n.4263C>A
ENST00000470453.1:n.383-8C>A
ENST00000471818.1:n.470-8C>A
ENST00000474839.5:c.*2913-8C>A	ENSP00000420470.1:n.*2913-8C>A
ENST00000483553.5:c.1063C>A
ENST00000491994.1:c.622C>A
NM_006929.4:c.3541-8C>A	NP_008860.4:n.3541-8C>A
XR_926301.3:n.3557-8C>A
NM_006929.5:c.3541-8C>A MANE Select	NP_008860.4:n.3541-8C>A