Canonical Allele Identifier: CA2573140249

Gene: SKIC2

Linked Data

• ClinVar Variation Id: 1623539
• ClinVar RCV Id: RCV002110132
• dbSNP Id: rs1357977986
• gnomAD v4: 6-31960212-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31960212C>A , CM000668.2:g.31960212C>A	GRCh38
NC_000006.11:g.31927989C>A , CM000668.1:g.31927989C>A	GRCh37
NC_000006.10:g.32035968C>A	NCBI36
NG_032652.1:g.6409C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.237-8C>A	ENSP00000419905.1:n.237-8C>A
ENST00000483553.6:c.237-8C>A	ENSP00000420332.2:n.237-8C>A
ENST00000485349.6:n.278-8C>A
ENST00000491994.2:c.237-8C>A	ENSP00000417586.2:n.237-8C>A
ENST00000494058.6:n.294-8C>A
ENST00000697831.1:c.237-8C>A	ENSP00000513453.1:n.237-8C>A
ENST00000697832.1:n.313-8C>A
ENST00000697833.1:c.237-8C>A	ENSP00000513454.1:n.237-8C>A
ENST00000697834.1:n.289-8C>A
ENST00000697835.1:c.248C>A	ENSP00000513455.1:p.Ser83Tyr
ENST00000697836.1:n.273-8C>A
ENST00000697837.1:c.237-8C>A	ENSP00000513456.1:n.237-8C>A
ENST00000697838.1:c.102-8C>A	ENSP00000513457.1:n.102-8C>A
ENST00000697839.1:n.259-8C>A
ENST00000697840.1:c.237-8C>A	ENSP00000513458.1:n.237-8C>A
ENST00000697841.1:n.248-8C>A
ENST00000697842.1:n.237-8C>A
ENST00000375394.7:c.237-8C>A MANE Select	ENSP00000364543.2:n.237-8C>A
ENST00000375394.6:c.237-8C>A	ENSP00000364543.2:n.237-8C>A
ENST00000461073.5:c.237-8C>A	ENSP00000419905.1:n.237-8C>A
ENST00000465703.5:n.289-8C>A
ENST00000474839.5:c.126+812C>A	ENSP00000420470.1:n.126+812C>A
ENST00000488648.5:n.313-8C>A
ENST00000628157.1:c.126+812C>A	ENSP00000485707.1:n.126+812C>A
NM_006929.4:c.237-8C>A	NP_008860.4:n.237-8C>A
XM_006715168.2:c.237-8C>A	XP_006715231.1:n.237-8C>A
XM_011514815.1:c.237-8C>A	XP_011513117.1:n.237-8C>A
XR_926301.1:n.325-8C>A
XM_011514815.3:c.237-8C>A	XP_011513117.1:n.237-8C>A
XR_001743586.2:n.273-8C>A
XR_926301.3:n.273-8C>A
NM_006929.5:c.237-8C>A MANE Select	NP_008860.4:n.237-8C>A