Canonical Allele Identifier: CA3730023

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969000C>T , CM000668.2:g.31969000C>T	GRCh38
NC_000006.11:g.31936777C>T , CM000668.1:g.31936777C>T	GRCh37
NC_000006.10:g.32044756C>T	NCBI36
NG_032652.1:g.15197C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006929.5:c.3310C>T MANE Select	NP_008860.4:p.Arg1104Trp
ENST00000375394.7:c.3310C>T MANE Select	ENSP00000364543.2:p.Arg1104Trp
NM_006929.4:c.3310C>T	NP_008860.4:p.Arg1104Trp
ENST00000375394.6:c.3310C>T	ENSP00000364543.2:p.Arg1104Trp
ENST00000461073.6:c.*2264C>T	ENSP00000419905.1:n.*2264C>T
ENST00000465703.5:n.3946C>T
ENST00000470453.1:n.256C>T
ENST00000471818.1:n.239C>T
ENST00000474839.5:c.*2682C>T	ENSP00000420470.1:n.*2682C>T
ENST00000483553.5:c.746C>T
ENST00000483553.6:c.*277C>T	ENSP00000420332.2:n.*277C>T
ENST00000485349.5:n.326C>T
ENST00000485349.6:n.3596C>T
ENST00000491994.1:c.305C>T
ENST00000491994.2:c.3310C>T	ENSP00000417586.2:p.Arg1104Trp
ENST00000494058.6:n.3612C>T
ENST00000697831.1:c.3241C>T	ENSP00000513453.1:p.Arg1081Trp
ENST00000697832.1:n.3463C>T
ENST00000697833.1:c.*258C>T	ENSP00000513454.1:n.*258C>T
ENST00000697834.1:n.3744C>T
ENST00000697835.1:c.*2828C>T	ENSP00000513455.1:n.*2828C>T
ENST00000697836.1:n.3641C>T
ENST00000697837.1:c.*426C>T	ENSP00000513456.1:n.*426C>T
ENST00000697838.1:c.3175C>T	ENSP00000513457.1:p.Arg1059Trp
ENST00000697839.1:n.3838C>T
ENST00000697840.1:c.3346C>T	ENSP00000513458.1:p.Arg1116Trp
ENST00000697841.1:n.4127C>T
ENST00000697842.1:n.3565C>T
XR_001743586.2:n.3409C>T
XR_926301.3:n.3326C>T