Canonical Allele Identifier: CA363490422

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937192G>T (hg19) ; chr6:g.31969415G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969415G>T , CM000668.2:g.31969415G>T	GRCh38
NC_000006.11:g.31937192G>T , CM000668.1:g.31937192G>T	GRCh37
NC_000006.10:g.32045171G>T	NCBI36
NG_032652.1:g.15612G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2489G>T	ENSP00000419905.1:n.*2489G>T
ENST00000483553.6:c.*502G>T	ENSP00000420332.2:n.*502G>T
ENST00000485349.6:n.4011G>T
ENST00000491994.2:c.3535G>T	ENSP00000417586.2:p.Gly1179Cys
ENST00000494058.6:n.3837G>T
ENST00000697831.1:c.3466G>T	ENSP00000513453.1:p.Gly1156Cys
ENST00000697832.1:n.3688G>T
ENST00000697833.1:c.*483G>T	ENSP00000513454.1:n.*483G>T
ENST00000697834.1:n.4159G>T
ENST00000697835.1:c.*3053G>T	ENSP00000513455.1:n.*3053G>T
ENST00000697836.1:n.3866G>T
ENST00000697837.1:c.*651G>T	ENSP00000513456.1:n.*651G>T
ENST00000697838.1:c.3400G>T	ENSP00000513457.1:p.Gly1134Cys
ENST00000697839.1:n.4253G>T
ENST00000697840.1:c.3571G>T	ENSP00000513458.1:p.Gly1191Cys
ENST00000697841.1:n.4352G>T
ENST00000697842.1:n.3790G>T
ENST00000375394.7:c.3535G>T MANE Select	ENSP00000364543.2:p.Gly1179Cys
ENST00000375394.6:c.3535G>T	ENSP00000364543.2:p.Gly1179Cys
ENST00000465703.5:n.4171G>T
ENST00000470453.1:n.383-100G>T
ENST00000471818.1:n.464G>T
ENST00000474839.5:c.*2907G>T	ENSP00000420470.1:n.*2907G>T
ENST00000483553.5:c.971G>T
ENST00000491994.1:c.530G>T
NM_006929.4:c.3535G>T	NP_008860.4:p.Gly1179Cys
XR_001743586.2:n.3634G>T
XR_926301.3:n.3551G>T
NM_006929.5:c.3535G>T MANE Select	NP_008860.4:p.Gly1179Cys