Canonical Allele Identifier: CA3729791

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31967273C>T , CM000668.2:g.31967273C>T	GRCh38
NC_000006.11:g.31935050C>T , CM000668.1:g.31935050C>T	GRCh37
NC_000006.10:g.32043029C>T	NCBI36
NG_032652.1:g.13470C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006929.5:c.2479C>T MANE Select	NP_008860.4:p.Arg827Ter
ENST00000375394.7:c.2479C>T MANE Select	ENSP00000364543.2:p.Arg827Ter
NM_006929.4:c.2479C>T	NP_008860.4:p.Arg827Ter
ENST00000375394.6:c.2479C>T	ENSP00000364543.2:p.Arg827Ter
ENST00000461073.6:c.*1498C>T	ENSP00000419905.1:n.*1498C>T
ENST00000461915.5:n.158C>T
ENST00000465703.5:n.2978C>T
ENST00000474839.5:c.*1851C>T	ENSP00000420470.1:n.*1851C>T
ENST00000483553.6:c.2479C>T	ENSP00000420332.2:p.Arg827Ter
ENST00000484835.1:n.40C>T
ENST00000485349.6:n.2520C>T
ENST00000491994.2:c.2479C>T	ENSP00000417586.2:p.Arg827Ter
ENST00000494058.5:n.122C>T
ENST00000494058.6:n.2536C>T
ENST00000697831.1:c.2479C>T	ENSP00000513453.1:p.Arg827Ter
ENST00000697832.1:n.2632C>T
ENST00000697833.1:c.2479C>T	ENSP00000513454.1:p.Arg827Ter
ENST00000697834.1:n.2531C>T
ENST00000697835.1:c.*1997C>T	ENSP00000513455.1:n.*1997C>T
ENST00000697836.1:n.2515C>T
ENST00000697837.1:c.2479C>T	ENSP00000513456.1:p.Arg827Ter
ENST00000697838.1:c.2344C>T	ENSP00000513457.1:p.Arg782Ter
ENST00000697839.1:n.2762C>T
ENST00000697840.1:c.2515C>T	ENSP00000513458.1:p.Arg839Ter
ENST00000697841.1:n.3051C>T
ENST00000697842.1:n.2489C>T
XM_006715168.2:c.2479C>T	XP_006715231.1:p.Arg827Ter
XM_011514815.1:c.2479C>T	XP_011513117.1:p.Arg827Ter
XM_011514815.3:c.2479C>T	XP_011513117.1:p.Arg827Ter
XR_001743586.2:n.2515C>T
XR_926301.1:n.2567C>T
XR_926301.3:n.2515C>T