Canonical Allele Identifier: CA363490430

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937193G>C (hg19) ; chr6:g.31969416G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969416G>C , CM000668.2:g.31969416G>C	GRCh38
NC_000006.11:g.31937193G>C , CM000668.1:g.31937193G>C	GRCh37
NC_000006.10:g.32045172G>C	NCBI36
NG_032652.1:g.15613G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2490G>C	ENSP00000419905.1:n.*2490G>C
ENST00000483553.6:c.*503G>C	ENSP00000420332.2:n.*503G>C
ENST00000485349.6:n.4012G>C
ENST00000491994.2:c.3536G>C	ENSP00000417586.2:p.Gly1179Ala
ENST00000494058.6:n.3838G>C
ENST00000697831.1:c.3467G>C	ENSP00000513453.1:p.Gly1156Ala
ENST00000697832.1:n.3689G>C
ENST00000697833.1:c.*484G>C	ENSP00000513454.1:n.*484G>C
ENST00000697834.1:n.4160G>C
ENST00000697835.1:c.*3054G>C	ENSP00000513455.1:n.*3054G>C
ENST00000697836.1:n.3867G>C
ENST00000697837.1:c.*652G>C	ENSP00000513456.1:n.*652G>C
ENST00000697838.1:c.3401G>C	ENSP00000513457.1:p.Gly1134Ala
ENST00000697839.1:n.4254G>C
ENST00000697840.1:c.3572G>C	ENSP00000513458.1:p.Gly1191Ala
ENST00000697841.1:n.4353G>C
ENST00000697842.1:n.3791G>C
ENST00000375394.7:c.3536G>C MANE Select	ENSP00000364543.2:p.Gly1179Ala
ENST00000375394.6:c.3536G>C	ENSP00000364543.2:p.Gly1179Ala
ENST00000465703.5:n.4172G>C
ENST00000470453.1:n.383-99G>C
ENST00000471818.1:n.465G>C
ENST00000474839.5:c.*2908G>C	ENSP00000420470.1:n.*2908G>C
ENST00000483553.5:c.972G>C
ENST00000491994.1:c.531G>C
NM_006929.4:c.3536G>C	NP_008860.4:p.Gly1179Ala
XR_001743586.2:n.3635G>C
XR_926301.3:n.3552G>C
NM_006929.5:c.3536G>C MANE Select	NP_008860.4:p.Gly1179Ala