Canonical Allele Identifier: CA363489938

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937136A>C (hg19) ; chr6:g.31969359A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2433A>C	ENSP00000419905.1:n.*2433A>C
ENST00000483553.6:c.*446A>C	ENSP00000420332.2:n.*446A>C
ENST00000485349.6:n.3955A>C
ENST00000491994.2:c.3479A>C	ENSP00000417586.2:p.Glu1160Ala
ENST00000494058.6:n.3781A>C
ENST00000697831.1:c.3410A>C	ENSP00000513453.1:p.Glu1137Ala
ENST00000697832.1:n.3632A>C
ENST00000697833.1:c.*427A>C	ENSP00000513454.1:n.*427A>C
ENST00000697834.1:n.4103A>C
ENST00000697835.1:c.*2997A>C	ENSP00000513455.1:n.*2997A>C
ENST00000697836.1:n.3810A>C
ENST00000697837.1:c.*595A>C	ENSP00000513456.1:n.*595A>C
ENST00000697838.1:c.3344A>C	ENSP00000513457.1:p.Glu1115Ala
ENST00000697839.1:n.4197A>C
ENST00000697840.1:c.3515A>C	ENSP00000513458.1:p.Glu1172Ala
ENST00000697841.1:n.4296A>C
ENST00000697842.1:n.3734A>C
ENST00000375394.7:c.3479A>C MANE Select	ENSP00000364543.2:p.Glu1160Ala
ENST00000375394.6:c.3479A>C	ENSP00000364543.2:p.Glu1160Ala
ENST00000465703.5:n.4115A>C
ENST00000470453.1:n.382+43A>C
ENST00000471818.1:n.408A>C
ENST00000474839.5:c.*2851A>C	ENSP00000420470.1:n.*2851A>C
ENST00000483553.5:c.915A>C
ENST00000485349.5:n.685A>C
ENST00000491994.1:c.474A>C
NM_006929.4:c.3479A>C	NP_008860.4:p.Glu1160Ala
XR_001743586.2:n.3578A>C
XR_926301.3:n.3495A>C
NM_006929.5:c.3479A>C MANE Select	NP_008860.4:p.Glu1160Ala