Canonical Allele Identifier: CA363490347

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937185G>T (hg19) ; chr6:g.31969408G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969408G>T , CM000668.2:g.31969408G>T	GRCh38
NC_000006.11:g.31937185G>T , CM000668.1:g.31937185G>T	GRCh37
NC_000006.10:g.32045164G>T	NCBI36
NG_032652.1:g.15605G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2482G>T	ENSP00000419905.1:n.*2482G>T
ENST00000483553.6:c.*495G>T	ENSP00000420332.2:n.*495G>T
ENST00000485349.6:n.4004G>T
ENST00000491994.2:c.3528G>T	ENSP00000417586.2:p.Trp1176Cys
ENST00000494058.6:n.3830G>T
ENST00000697831.1:c.3459G>T	ENSP00000513453.1:p.Trp1153Cys
ENST00000697832.1:n.3681G>T
ENST00000697833.1:c.*476G>T	ENSP00000513454.1:n.*476G>T
ENST00000697834.1:n.4152G>T
ENST00000697835.1:c.*3046G>T	ENSP00000513455.1:n.*3046G>T
ENST00000697836.1:n.3859G>T
ENST00000697837.1:c.*644G>T	ENSP00000513456.1:n.*644G>T
ENST00000697838.1:c.3393G>T	ENSP00000513457.1:p.Trp1131Cys
ENST00000697839.1:n.4246G>T
ENST00000697840.1:c.3564G>T	ENSP00000513458.1:p.Trp1188Cys
ENST00000697841.1:n.4345G>T
ENST00000697842.1:n.3783G>T
ENST00000375394.7:c.3528G>T MANE Select	ENSP00000364543.2:p.Trp1176Cys
ENST00000375394.6:c.3528G>T	ENSP00000364543.2:p.Trp1176Cys
ENST00000465703.5:n.4164G>T
ENST00000470453.1:n.382+92G>T
ENST00000471818.1:n.457G>T
ENST00000474839.5:c.*2900G>T	ENSP00000420470.1:n.*2900G>T
ENST00000483553.5:c.964G>T
ENST00000485349.5:n.734G>T
ENST00000491994.1:c.523G>T
NM_006929.4:c.3528G>T	NP_008860.4:p.Trp1176Cys
XR_001743586.2:n.3627G>T
XR_926301.3:n.3544G>T
NM_006929.5:c.3528G>T MANE Select	NP_008860.4:p.Trp1176Cys