Canonical Allele Identifier: CA363489932

Gene: SKIC2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2432G>C	ENSP00000419905.1:n.*2432G>C
ENST00000483553.6:c.*445G>C	ENSP00000420332.2:n.*445G>C
ENST00000485349.6:n.3954G>C
ENST00000491994.2:c.3478G>C	ENSP00000417586.2:p.Glu1160Gln
ENST00000494058.6:n.3780G>C
ENST00000697831.1:c.3409G>C	ENSP00000513453.1:p.Glu1137Gln
ENST00000697832.1:n.3631G>C
ENST00000697833.1:c.*426G>C	ENSP00000513454.1:n.*426G>C
ENST00000697834.1:n.4102G>C
ENST00000697835.1:c.*2996G>C	ENSP00000513455.1:n.*2996G>C
ENST00000697836.1:n.3809G>C
ENST00000697837.1:c.*594G>C	ENSP00000513456.1:n.*594G>C
ENST00000697838.1:c.3343G>C	ENSP00000513457.1:p.Glu1115Gln
ENST00000697839.1:n.4196G>C
ENST00000697840.1:c.3514G>C	ENSP00000513458.1:p.Glu1172Gln
ENST00000697841.1:n.4295G>C
ENST00000697842.1:n.3733G>C
ENST00000375394.7:c.3478G>C MANE Select	ENSP00000364543.2:p.Glu1160Gln
ENST00000375394.6:c.3478G>C	ENSP00000364543.2:p.Glu1160Gln
ENST00000465703.5:n.4114G>C
ENST00000470453.1:n.382+42G>C
ENST00000471818.1:n.407G>C
ENST00000474839.5:c.*2850G>C	ENSP00000420470.1:n.*2850G>C
ENST00000483553.5:c.914G>C
ENST00000485349.5:n.684G>C
ENST00000491994.1:c.473G>C
NM_006929.4:c.3478G>C	NP_008860.4:p.Glu1160Gln
XR_001743586.2:n.3577G>C
XR_926301.3:n.3494G>C
NM_006929.5:c.3478G>C MANE Select	NP_008860.4:p.Glu1160Gln