Canonical Allele Identifier: CA363491380

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937364G>A (hg19) ; chr6:g.31969587G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969587G>A , CM000668.2:g.31969587G>A	GRCh38
NC_000006.11:g.31937364G>A , CM000668.1:g.31937364G>A	GRCh37
NC_000006.10:g.32045343G>A	NCBI36
NG_032652.1:g.15784G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2661G>A	ENSP00000419905.1:n.*2661G>A
ENST00000485349.6:n.4089G>A
ENST00000491994.2:c.*155G>A	ENSP00000417586.2:n.*155G>A
ENST00000494058.6:n.3915G>A
ENST00000697831.1:c.3544G>A	ENSP00000513453.1:p.Glu1182Lys
ENST00000697832.1:n.3766G>A
ENST00000697833.1:c.*561G>A	ENSP00000513454.1:n.*561G>A
ENST00000697834.1:n.4331G>A
ENST00000697835.1:c.*3131G>A	ENSP00000513455.1:n.*3131G>A
ENST00000697836.1:n.3967G>A
ENST00000697837.1:c.*729G>A	ENSP00000513456.1:n.*729G>A
ENST00000697838.1:c.3478G>A	ENSP00000513457.1:p.Glu1160Lys
ENST00000697839.1:n.4425G>A
ENST00000697840.1:c.3649G>A	ENSP00000513458.1:p.Glu1217Lys
ENST00000697841.1:n.4524G>A
ENST00000697842.1:n.3868G>A
ENST00000375394.7:c.3613G>A MANE Select	ENSP00000364543.2:p.Glu1205Lys
ENST00000375394.6:c.3613G>A	ENSP00000364543.2:p.Glu1205Lys
ENST00000465703.5:n.4343G>A
ENST00000470453.1:n.455G>A
ENST00000471818.1:n.542G>A
ENST00000474839.5:c.*2985G>A	ENSP00000420470.1:n.*2985G>A
ENST00000483553.5:c.1143G>A
ENST00000491994.1:c.702G>A
NM_006929.4:c.3613G>A	NP_008860.4:p.Glu1205Lys
XR_926301.3:n.3629G>A
NM_006929.5:c.3613G>A MANE Select	NP_008860.4:p.Glu1205Lys