Canonical Allele Identifier: CA363489930

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937135G>A (hg19) ; chr6:g.31969358G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969358G>A , CM000668.2:g.31969358G>A	GRCh38
NC_000006.11:g.31937135G>A , CM000668.1:g.31937135G>A	GRCh37
NC_000006.10:g.32045114G>A	NCBI36
NG_032652.1:g.15555G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2432G>A	ENSP00000419905.1:n.*2432G>A
ENST00000483553.6:c.*445G>A	ENSP00000420332.2:n.*445G>A
ENST00000485349.6:n.3954G>A
ENST00000491994.2:c.3478G>A	ENSP00000417586.2:p.Glu1160Lys
ENST00000494058.6:n.3780G>A
ENST00000697831.1:c.3409G>A	ENSP00000513453.1:p.Glu1137Lys
ENST00000697832.1:n.3631G>A
ENST00000697833.1:c.*426G>A	ENSP00000513454.1:n.*426G>A
ENST00000697834.1:n.4102G>A
ENST00000697835.1:c.*2996G>A	ENSP00000513455.1:n.*2996G>A
ENST00000697836.1:n.3809G>A
ENST00000697837.1:c.*594G>A	ENSP00000513456.1:n.*594G>A
ENST00000697838.1:c.3343G>A	ENSP00000513457.1:p.Glu1115Lys
ENST00000697839.1:n.4196G>A
ENST00000697840.1:c.3514G>A	ENSP00000513458.1:p.Glu1172Lys
ENST00000697841.1:n.4295G>A
ENST00000697842.1:n.3733G>A
ENST00000375394.7:c.3478G>A MANE Select	ENSP00000364543.2:p.Glu1160Lys
ENST00000375394.6:c.3478G>A	ENSP00000364543.2:p.Glu1160Lys
ENST00000465703.5:n.4114G>A
ENST00000470453.1:n.382+42G>A
ENST00000471818.1:n.407G>A
ENST00000474839.5:c.*2850G>A	ENSP00000420470.1:n.*2850G>A
ENST00000483553.5:c.914G>A
ENST00000485349.5:n.684G>A
ENST00000491994.1:c.473G>A
NM_006929.4:c.3478G>A	NP_008860.4:p.Glu1160Lys
XR_001743586.2:n.3577G>A
XR_926301.3:n.3494G>A
NM_006929.5:c.3478G>A MANE Select	NP_008860.4:p.Glu1160Lys