Canonical Allele Identifier: CA3730072

Gene: SKIC2

Linked Data

• ClinVar Variation Id: 2976944
• ClinVar RCV Id: RCV003839078
• dbSNP Id: rs776040607
• ExAC: 6:31937143 G / A
• gnomAD v2: 6-31937143-G-A
• gnomAD v4: 6-31969366-G-A
• MyVariant Identifiers: chr6:g.31937143G>A (hg19) ; chr6:g.31969366G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969366G>A , CM000668.2:g.31969366G>A	GRCh38
NC_000006.11:g.31937143G>A , CM000668.1:g.31937143G>A	GRCh37
NC_000006.10:g.32045122G>A	NCBI36
NG_032652.1:g.15563G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2440G>A	ENSP00000419905.1:n.*2440G>A
ENST00000483553.6:c.*453G>A	ENSP00000420332.2:n.*453G>A
ENST00000485349.6:n.3962G>A
ENST00000491994.2:c.3486G>A	ENSP00000417586.2:p.Val1162=
ENST00000494058.6:n.3788G>A
ENST00000697831.1:c.3417G>A	ENSP00000513453.1:p.Val1139=
ENST00000697832.1:n.3639G>A
ENST00000697833.1:c.*434G>A	ENSP00000513454.1:n.*434G>A
ENST00000697834.1:n.4110G>A
ENST00000697835.1:c.*3004G>A	ENSP00000513455.1:n.*3004G>A
ENST00000697836.1:n.3817G>A
ENST00000697837.1:c.*602G>A	ENSP00000513456.1:n.*602G>A
ENST00000697838.1:c.3351G>A	ENSP00000513457.1:p.Val1117=
ENST00000697839.1:n.4204G>A
ENST00000697840.1:c.3522G>A	ENSP00000513458.1:p.Val1174=
ENST00000697841.1:n.4303G>A
ENST00000697842.1:n.3741G>A
ENST00000375394.7:c.3486G>A MANE Select	ENSP00000364543.2:p.Val1162=
ENST00000375394.6:c.3486G>A	ENSP00000364543.2:p.Val1162=
ENST00000465703.5:n.4122G>A
ENST00000470453.1:n.382+50G>A
ENST00000471818.1:n.415G>A
ENST00000474839.5:c.*2858G>A	ENSP00000420470.1:n.*2858G>A
ENST00000483553.5:c.922G>A
ENST00000485349.5:n.692G>A
ENST00000491994.1:c.481G>A
NM_006929.4:c.3486G>A	NP_008860.4:p.Val1162=
XR_001743586.2:n.3585G>A
XR_926301.3:n.3502G>A
NM_006929.5:c.3486G>A MANE Select	NP_008860.4:p.Val1162=