Canonical Allele Identifier: CA363491040

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937328G>C (hg19) ; chr6:g.31969551G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969551G>C , CM000668.2:g.31969551G>C	GRCh38
NC_000006.11:g.31937328G>C , CM000668.1:g.31937328G>C	GRCh37
NC_000006.10:g.32045307G>C	NCBI36
NG_032652.1:g.15748G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2625G>C	ENSP00000419905.1:n.*2625G>C
ENST00000485349.6:n.4053G>C
ENST00000491994.2:c.*119G>C	ENSP00000417586.2:n.*119G>C
ENST00000494058.6:n.3879G>C
ENST00000697831.1:c.3508G>C	ENSP00000513453.1:p.Glu1170Gln
ENST00000697832.1:n.3730G>C
ENST00000697833.1:c.*525G>C	ENSP00000513454.1:n.*525G>C
ENST00000697834.1:n.4295G>C
ENST00000697835.1:c.*3095G>C	ENSP00000513455.1:n.*3095G>C
ENST00000697836.1:n.3931G>C
ENST00000697837.1:c.*693G>C	ENSP00000513456.1:n.*693G>C
ENST00000697838.1:c.3442G>C	ENSP00000513457.1:p.Glu1148Gln
ENST00000697839.1:n.4389G>C
ENST00000697840.1:c.3613G>C	ENSP00000513458.1:p.Glu1205Gln
ENST00000697841.1:n.4488G>C
ENST00000697842.1:n.3832G>C
ENST00000375394.7:c.3577G>C MANE Select	ENSP00000364543.2:p.Glu1193Gln
ENST00000375394.6:c.3577G>C	ENSP00000364543.2:p.Glu1193Gln
ENST00000465703.5:n.4307G>C
ENST00000470453.1:n.419G>C
ENST00000471818.1:n.506G>C
ENST00000474839.5:c.*2949G>C	ENSP00000420470.1:n.*2949G>C
ENST00000483553.5:c.1107G>C
ENST00000491994.1:c.666G>C
NM_006929.4:c.3577G>C	NP_008860.4:p.Glu1193Gln
XR_926301.3:n.3593G>C
NM_006929.5:c.3577G>C MANE Select	NP_008860.4:p.Glu1193Gln