Canonical Allele Identifier: CA2739272865

Gene: SKIC2

Linked Data

• ClinVar Variation Id: 2808954
• ClinVar RCV Id: RCV003677245

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31960200G>A , CM000668.2:g.31960200G>A	GRCh38
NC_000006.11:g.31927977G>A , CM000668.1:g.31927977G>A	GRCh37
NC_000006.10:g.32035956G>A	NCBI36
NG_032652.1:g.6397G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.237-20G>A	ENSP00000419905.1:n.237-20G>A
ENST00000483553.6:c.237-20G>A	ENSP00000420332.2:n.237-20G>A
ENST00000485349.6:n.278-20G>A
ENST00000491994.2:c.237-20G>A	ENSP00000417586.2:n.237-20G>A
ENST00000494058.6:n.294-20G>A
ENST00000697831.1:c.237-20G>A	ENSP00000513453.1:n.237-20G>A
ENST00000697832.1:n.313-20G>A
ENST00000697833.1:c.237-20G>A	ENSP00000513454.1:n.237-20G>A
ENST00000697834.1:n.289-20G>A
ENST00000697835.1:c.237-1G>A	ENSP00000513455.1:n.237-1G>A
ENST00000697836.1:n.273-20G>A
ENST00000697837.1:c.237-20G>A	ENSP00000513456.1:n.237-20G>A
ENST00000697838.1:c.102-20G>A	ENSP00000513457.1:n.102-20G>A
ENST00000697839.1:n.259-20G>A
ENST00000697840.1:c.237-20G>A	ENSP00000513458.1:n.237-20G>A
ENST00000697841.1:n.248-20G>A
ENST00000697842.1:n.237-20G>A
ENST00000375394.7:c.237-20G>A MANE Select	ENSP00000364543.2:n.237-20G>A
ENST00000375394.6:c.237-20G>A	ENSP00000364543.2:n.237-20G>A
ENST00000461073.5:c.237-20G>A	ENSP00000419905.1:n.237-20G>A
ENST00000465703.5:n.289-20G>A
ENST00000474839.5:c.126+800G>A	ENSP00000420470.1:n.126+800G>A
ENST00000488648.5:n.313-20G>A
ENST00000628157.1:c.126+800G>A	ENSP00000485707.1:n.126+800G>A
NM_006929.4:c.237-20G>A	NP_008860.4:n.237-20G>A
XM_006715168.2:c.237-20G>A	XP_006715231.1:n.237-20G>A
XM_011514815.1:c.237-20G>A	XP_011513117.1:n.237-20G>A
XR_926301.1:n.325-20G>A
XM_011514815.3:c.237-20G>A	XP_011513117.1:n.237-20G>A
XR_001743586.2:n.273-20G>A
XR_926301.3:n.273-20G>A
NM_006929.5:c.237-20G>A MANE Select	NP_008860.4:n.237-20G>A