Canonical Allele Identifier: CA449702088

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31930273A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31962496A>C , CM000668.2:g.31962496A>C	GRCh38
NC_000006.11:g.31930273A>C , CM000668.1:g.31930273A>C	GRCh37
NC_000006.10:g.32038252A>C	NCBI36
NG_032652.1:g.8693A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*238A>C	ENSP00000419905.1:n.*238A>C
ENST00000483553.6:c.1122A>C	ENSP00000420332.2:p.Arg374=
ENST00000485349.6:n.1163A>C
ENST00000491994.2:c.1122A>C	ENSP00000417586.2:p.Arg374=
ENST00000494058.6:n.1179A>C
ENST00000697831.1:c.1122A>C	ENSP00000513453.1:p.Arg374=
ENST00000697832.1:n.1198A>C
ENST00000697833.1:c.1122A>C	ENSP00000513454.1:p.Arg374=
ENST00000697834.1:n.1174A>C
ENST00000697835.1:c.*640A>C	ENSP00000513455.1:n.*640A>C
ENST00000697836.1:n.1158A>C
ENST00000697837.1:c.1122A>C	ENSP00000513456.1:p.Arg374=
ENST00000697838.1:c.987A>C	ENSP00000513457.1:p.Arg329=
ENST00000697839.1:n.1405A>C
ENST00000697840.1:c.1158A>C	ENSP00000513458.1:p.Arg386=
ENST00000697841.1:n.1694A>C
ENST00000697842.1:n.1122A>C
ENST00000375394.7:c.1122A>C MANE Select	ENSP00000364543.2:p.Arg374=
ENST00000375394.6:c.1122A>C	ENSP00000364543.2:p.Arg374=
ENST00000461073.5:c.*238A>C	ENSP00000419905.1:n.*238A>C
ENST00000465703.5:n.1435A>C
ENST00000466290.1:n.383A>C
ENST00000474839.5:c.*494A>C	ENSP00000420470.1:n.*494A>C
NM_006929.4:c.1122A>C	NP_008860.4:p.Arg374=
XM_006715168.2:c.1122A>C	XP_006715231.1:p.Arg374=
XM_011514815.1:c.1122A>C	XP_011513117.1:p.Arg374=
XR_926301.1:n.1210A>C
XM_011514815.3:c.1122A>C	XP_011513117.1:p.Arg374=
XR_001743586.2:n.1158A>C
XR_926301.3:n.1158A>C
NM_006929.5:c.1122A>C MANE Select	NP_008860.4:p.Arg374=