Canonical Allele Identifier: CA363490026

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937148A>C (hg19) ; chr6:g.31969371A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969371A>C , CM000668.2:g.31969371A>C	GRCh38
NC_000006.11:g.31937148A>C , CM000668.1:g.31937148A>C	GRCh37
NC_000006.10:g.32045127A>C	NCBI36
NG_032652.1:g.15568A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2445A>C	ENSP00000419905.1:n.*2445A>C
ENST00000483553.6:c.*458A>C	ENSP00000420332.2:n.*458A>C
ENST00000485349.6:n.3967A>C
ENST00000491994.2:c.3491A>C	ENSP00000417586.2:p.Glu1164Ala
ENST00000494058.6:n.3793A>C
ENST00000697831.1:c.3422A>C	ENSP00000513453.1:p.Glu1141Ala
ENST00000697832.1:n.3644A>C
ENST00000697833.1:c.*439A>C	ENSP00000513454.1:n.*439A>C
ENST00000697834.1:n.4115A>C
ENST00000697835.1:c.*3009A>C	ENSP00000513455.1:n.*3009A>C
ENST00000697836.1:n.3822A>C
ENST00000697837.1:c.*607A>C	ENSP00000513456.1:n.*607A>C
ENST00000697838.1:c.3356A>C	ENSP00000513457.1:p.Glu1119Ala
ENST00000697839.1:n.4209A>C
ENST00000697840.1:c.3527A>C	ENSP00000513458.1:p.Glu1176Ala
ENST00000697841.1:n.4308A>C
ENST00000697842.1:n.3746A>C
ENST00000375394.7:c.3491A>C MANE Select	ENSP00000364543.2:p.Glu1164Ala
ENST00000375394.6:c.3491A>C	ENSP00000364543.2:p.Glu1164Ala
ENST00000465703.5:n.4127A>C
ENST00000470453.1:n.382+55A>C
ENST00000471818.1:n.420A>C
ENST00000474839.5:c.*2863A>C	ENSP00000420470.1:n.*2863A>C
ENST00000483553.5:c.927A>C
ENST00000485349.5:n.697A>C
ENST00000491994.1:c.486A>C
NM_006929.4:c.3491A>C	NP_008860.4:p.Glu1164Ala
XR_001743586.2:n.3590A>C
XR_926301.3:n.3507A>C
NM_006929.5:c.3491A>C MANE Select	NP_008860.4:p.Glu1164Ala