Canonical Allele Identifier: CA363489877

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937130T>C (hg19) ; chr6:g.31969353T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969353T>C , CM000668.2:g.31969353T>C	GRCh38
NC_000006.11:g.31937130T>C , CM000668.1:g.31937130T>C	GRCh37
NC_000006.10:g.32045109T>C	NCBI36
NG_032652.1:g.15550T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2427T>C	ENSP00000419905.1:n.*2427T>C
ENST00000483553.6:c.*440T>C	ENSP00000420332.2:n.*440T>C
ENST00000485349.6:n.3949T>C
ENST00000491994.2:c.3473T>C	ENSP00000417586.2:p.Val1158Ala
ENST00000494058.6:n.3775T>C
ENST00000697831.1:c.3404T>C	ENSP00000513453.1:p.Val1135Ala
ENST00000697832.1:n.3626T>C
ENST00000697833.1:c.*421T>C	ENSP00000513454.1:n.*421T>C
ENST00000697834.1:n.4097T>C
ENST00000697835.1:c.*2991T>C	ENSP00000513455.1:n.*2991T>C
ENST00000697836.1:n.3804T>C
ENST00000697837.1:c.*589T>C	ENSP00000513456.1:n.*589T>C
ENST00000697838.1:c.3338T>C	ENSP00000513457.1:p.Val1113Ala
ENST00000697839.1:n.4191T>C
ENST00000697840.1:c.3509T>C	ENSP00000513458.1:p.Val1170Ala
ENST00000697841.1:n.4290T>C
ENST00000697842.1:n.3728T>C
ENST00000375394.7:c.3473T>C MANE Select	ENSP00000364543.2:p.Val1158Ala
ENST00000375394.6:c.3473T>C	ENSP00000364543.2:p.Val1158Ala
ENST00000465703.5:n.4109T>C
ENST00000470453.1:n.382+37T>C
ENST00000471818.1:n.402T>C
ENST00000474839.5:c.*2845T>C	ENSP00000420470.1:n.*2845T>C
ENST00000483553.5:c.909T>C
ENST00000485349.5:n.679T>C
ENST00000491994.1:c.468T>C
NM_006929.4:c.3473T>C	NP_008860.4:p.Val1158Ala
XR_001743586.2:n.3572T>C
XR_926301.3:n.3489T>C
NM_006929.5:c.3473T>C MANE Select	NP_008860.4:p.Val1158Ala