Canonical Allele Identifier: CA363490694

Gene: SKIC2

Linked Data

• ClinVar Variation Id: 2074768
• ClinVar RCV Id: RCV002982308
• dbSNP Id: rs1208679086
• gnomAD v2: 6-31937301-G-A
• gnomAD v3: 6-31969524-G-A
• gnomAD v4: 6-31969524-G-A
• MyVariant Identifiers: chr6:g.31937301G>A (hg19) ; chr6:g.31969524G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969524G>A , CM000668.2:g.31969524G>A	GRCh38
NC_000006.11:g.31937301G>A , CM000668.1:g.31937301G>A	GRCh37
NC_000006.10:g.32045280G>A	NCBI36
NG_032652.1:g.15721G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2598G>A	ENSP00000419905.1:n.*2598G>A
ENST00000485349.6:n.4026G>A
ENST00000491994.2:c.*92G>A	ENSP00000417586.2:n.*92G>A
ENST00000494058.6:n.3852G>A
ENST00000697831.1:c.3481G>A	ENSP00000513453.1:p.Glu1161Lys
ENST00000697832.1:n.3703G>A
ENST00000697833.1:c.*498G>A	ENSP00000513454.1:n.*498G>A
ENST00000697834.1:n.4268G>A
ENST00000697835.1:c.*3068G>A	ENSP00000513455.1:n.*3068G>A
ENST00000697836.1:n.3904G>A
ENST00000697837.1:c.*666G>A	ENSP00000513456.1:n.*666G>A
ENST00000697838.1:c.3415G>A	ENSP00000513457.1:p.Glu1139Lys
ENST00000697839.1:n.4362G>A
ENST00000697840.1:c.3586G>A	ENSP00000513458.1:p.Glu1196Lys
ENST00000697841.1:n.4461G>A
ENST00000697842.1:n.3805G>A
ENST00000375394.7:c.3550G>A MANE Select	ENSP00000364543.2:p.Glu1184Lys
ENST00000375394.6:c.3550G>A	ENSP00000364543.2:p.Glu1184Lys
ENST00000465703.5:n.4280G>A
ENST00000470453.1:n.392G>A
ENST00000471818.1:n.479G>A
ENST00000474839.5:c.*2922G>A	ENSP00000420470.1:n.*2922G>A
ENST00000483553.5:c.1080G>A
ENST00000491994.1:c.639G>A
NM_006929.4:c.3550G>A	NP_008860.4:p.Glu1184Lys
XR_926301.3:n.3566G>A
NM_006929.5:c.3550G>A MANE Select	NP_008860.4:p.Glu1184Lys