Canonical Allele Identifier: CA449702454

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31962574A>C , CM000668.2:g.31962574A>C	GRCh38
NC_000006.11:g.31930351A>C , CM000668.1:g.31930351A>C	GRCh37
NC_000006.10:g.32038330A>C	NCBI36
NG_032652.1:g.8771A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006929.5:c.1200A>C MANE Select	NP_008860.4:p.Thr400=
ENST00000375394.7:c.1200A>C MANE Select	ENSP00000364543.2:p.Thr400=
NM_006929.4:c.1200A>C	NP_008860.4:p.Thr400=
ENST00000375394.6:c.1200A>C	ENSP00000364543.2:p.Thr400=
ENST00000461073.5:c.*316A>C	ENSP00000419905.1:n.*316A>C
ENST00000461073.6:c.*316A>C	ENSP00000419905.1:n.*316A>C
ENST00000465703.5:n.1513A>C
ENST00000466290.1:n.461A>C
ENST00000474839.5:c.*572A>C	ENSP00000420470.1:n.*572A>C
ENST00000483553.6:c.1200A>C	ENSP00000420332.2:p.Thr400=
ENST00000485349.6:n.1241A>C
ENST00000491994.2:c.1200A>C	ENSP00000417586.2:p.Thr400=
ENST00000494058.6:n.1257A>C
ENST00000697831.1:c.1200A>C	ENSP00000513453.1:p.Thr400=
ENST00000697832.1:n.1276A>C
ENST00000697833.1:c.1200A>C	ENSP00000513454.1:p.Thr400=
ENST00000697834.1:n.1252A>C
ENST00000697835.1:c.*718A>C	ENSP00000513455.1:n.*718A>C
ENST00000697836.1:n.1236A>C
ENST00000697837.1:c.1200A>C	ENSP00000513456.1:p.Thr400=
ENST00000697838.1:c.1065A>C	ENSP00000513457.1:p.Thr355=
ENST00000697839.1:n.1483A>C
ENST00000697840.1:c.1236A>C	ENSP00000513458.1:p.Thr412=
ENST00000697841.1:n.1772A>C
ENST00000697842.1:n.1200A>C
XM_006715168.2:c.1200A>C	XP_006715231.1:p.Thr400=
XM_011514815.1:c.1200A>C	XP_011513117.1:p.Thr400=
XM_011514815.3:c.1200A>C	XP_011513117.1:p.Thr400=
XR_001743586.2:n.1236A>C
XR_926301.1:n.1288A>C
XR_926301.3:n.1236A>C