Canonical Allele Identifier: CA363491093

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937331G>C (hg19) ; chr6:g.31969554G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969554G>C , CM000668.2:g.31969554G>C	GRCh38
NC_000006.11:g.31937331G>C , CM000668.1:g.31937331G>C	GRCh37
NC_000006.10:g.32045310G>C	NCBI36
NG_032652.1:g.15751G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2628G>C	ENSP00000419905.1:n.*2628G>C
ENST00000485349.6:n.4056G>C
ENST00000491994.2:c.*122G>C	ENSP00000417586.2:n.*122G>C
ENST00000494058.6:n.3882G>C
ENST00000697831.1:c.3511G>C	ENSP00000513453.1:p.Gly1171Arg
ENST00000697832.1:n.3733G>C
ENST00000697833.1:c.*528G>C	ENSP00000513454.1:n.*528G>C
ENST00000697834.1:n.4298G>C
ENST00000697835.1:c.*3098G>C	ENSP00000513455.1:n.*3098G>C
ENST00000697836.1:n.3934G>C
ENST00000697837.1:c.*696G>C	ENSP00000513456.1:n.*696G>C
ENST00000697838.1:c.3445G>C	ENSP00000513457.1:p.Gly1149Arg
ENST00000697839.1:n.4392G>C
ENST00000697840.1:c.3616G>C	ENSP00000513458.1:p.Gly1206Arg
ENST00000697841.1:n.4491G>C
ENST00000697842.1:n.3835G>C
ENST00000375394.7:c.3580G>C MANE Select	ENSP00000364543.2:p.Gly1194Arg
ENST00000375394.6:c.3580G>C	ENSP00000364543.2:p.Gly1194Arg
ENST00000465703.5:n.4310G>C
ENST00000470453.1:n.422G>C
ENST00000471818.1:n.509G>C
ENST00000474839.5:c.*2952G>C	ENSP00000420470.1:n.*2952G>C
ENST00000483553.5:c.1110G>C
ENST00000491994.1:c.669G>C
NM_006929.4:c.3580G>C	NP_008860.4:p.Gly1194Arg
XR_926301.3:n.3596G>C
NM_006929.5:c.3580G>C MANE Select	NP_008860.4:p.Gly1194Arg