Canonical Allele Identifier: CA363490012

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937145G>C (hg19) ; chr6:g.31969368G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969368G>C , CM000668.2:g.31969368G>C	GRCh38
NC_000006.11:g.31937145G>C , CM000668.1:g.31937145G>C	GRCh37
NC_000006.10:g.32045124G>C	NCBI36
NG_032652.1:g.15565G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2442G>C	ENSP00000419905.1:n.*2442G>C
ENST00000483553.6:c.*455G>C	ENSP00000420332.2:n.*455G>C
ENST00000485349.6:n.3964G>C
ENST00000491994.2:c.3488G>C	ENSP00000417586.2:p.Gly1163Ala
ENST00000494058.6:n.3790G>C
ENST00000697831.1:c.3419G>C	ENSP00000513453.1:p.Gly1140Ala
ENST00000697832.1:n.3641G>C
ENST00000697833.1:c.*436G>C	ENSP00000513454.1:n.*436G>C
ENST00000697834.1:n.4112G>C
ENST00000697835.1:c.*3006G>C	ENSP00000513455.1:n.*3006G>C
ENST00000697836.1:n.3819G>C
ENST00000697837.1:c.*604G>C	ENSP00000513456.1:n.*604G>C
ENST00000697838.1:c.3353G>C	ENSP00000513457.1:p.Gly1118Ala
ENST00000697839.1:n.4206G>C
ENST00000697840.1:c.3524G>C	ENSP00000513458.1:p.Gly1175Ala
ENST00000697841.1:n.4305G>C
ENST00000697842.1:n.3743G>C
ENST00000375394.7:c.3488G>C MANE Select	ENSP00000364543.2:p.Gly1163Ala
ENST00000375394.6:c.3488G>C	ENSP00000364543.2:p.Gly1163Ala
ENST00000465703.5:n.4124G>C
ENST00000470453.1:n.382+52G>C
ENST00000471818.1:n.417G>C
ENST00000474839.5:c.*2860G>C	ENSP00000420470.1:n.*2860G>C
ENST00000483553.5:c.924G>C
ENST00000485349.5:n.694G>C
ENST00000491994.1:c.483G>C
NM_006929.4:c.3488G>C	NP_008860.4:p.Gly1163Ala
XR_001743586.2:n.3587G>C
XR_926301.3:n.3504G>C
NM_006929.5:c.3488G>C MANE Select	NP_008860.4:p.Gly1163Ala