Canonical Allele Identifier: CA363489953

Gene: SKIC2

Linked Data

• dbSNP Id: rs1773026867
• gnomAD v3: 6-31969359-A-G
• gnomAD v4: 6-31969359-A-G
• MyVariant Identifiers: chr6:g.31937136A>G (hg19) ; chr6:g.31969359A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969359A>G , CM000668.2:g.31969359A>G	GRCh38
NC_000006.11:g.31937136A>G , CM000668.1:g.31937136A>G	GRCh37
NC_000006.10:g.32045115A>G	NCBI36
NG_032652.1:g.15556A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2433A>G	ENSP00000419905.1:n.*2433A>G
ENST00000483553.6:c.*446A>G	ENSP00000420332.2:n.*446A>G
ENST00000485349.6:n.3955A>G
ENST00000491994.2:c.3479A>G	ENSP00000417586.2:p.Glu1160Gly
ENST00000494058.6:n.3781A>G
ENST00000697831.1:c.3410A>G	ENSP00000513453.1:p.Glu1137Gly
ENST00000697832.1:n.3632A>G
ENST00000697833.1:c.*427A>G	ENSP00000513454.1:n.*427A>G
ENST00000697834.1:n.4103A>G
ENST00000697835.1:c.*2997A>G	ENSP00000513455.1:n.*2997A>G
ENST00000697836.1:n.3810A>G
ENST00000697837.1:c.*595A>G	ENSP00000513456.1:n.*595A>G
ENST00000697838.1:c.3344A>G	ENSP00000513457.1:p.Glu1115Gly
ENST00000697839.1:n.4197A>G
ENST00000697840.1:c.3515A>G	ENSP00000513458.1:p.Glu1172Gly
ENST00000697841.1:n.4296A>G
ENST00000697842.1:n.3734A>G
ENST00000375394.7:c.3479A>G MANE Select	ENSP00000364543.2:p.Glu1160Gly
ENST00000375394.6:c.3479A>G	ENSP00000364543.2:p.Glu1160Gly
ENST00000465703.5:n.4115A>G
ENST00000470453.1:n.382+43A>G
ENST00000471818.1:n.408A>G
ENST00000474839.5:c.*2851A>G	ENSP00000420470.1:n.*2851A>G
ENST00000483553.5:c.915A>G
ENST00000485349.5:n.685A>G
ENST00000491994.1:c.474A>G
NM_006929.4:c.3479A>G	NP_008860.4:p.Glu1160Gly
XR_001743586.2:n.3578A>G
XR_926301.3:n.3495A>G
NM_006929.5:c.3479A>G MANE Select	NP_008860.4:p.Glu1160Gly