Canonical Allele Identifier: CA363491668

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937386G>C (hg19) ; chr6:g.31969609G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969609G>C , CM000668.2:g.31969609G>C	GRCh38
NC_000006.11:g.31937386G>C , CM000668.1:g.31937386G>C	GRCh37
NC_000006.10:g.32045365G>C	NCBI36
NG_032652.1:g.15806G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2683G>C	ENSP00000419905.1:n.*2683G>C
ENST00000485349.6:n.4111G>C
ENST00000491994.2:c.*177G>C	ENSP00000417586.2:n.*177G>C
ENST00000494058.6:n.3937G>C
ENST00000697831.1:c.3566G>C	ENSP00000513453.1:p.Gly1189Ala
ENST00000697832.1:n.3788G>C
ENST00000697834.1:n.4353G>C
ENST00000697835.1:c.*3153G>C	ENSP00000513455.1:n.*3153G>C
ENST00000697836.1:n.3989G>C
ENST00000697837.1:c.*751G>C	ENSP00000513456.1:n.*751G>C
ENST00000697838.1:c.3500G>C	ENSP00000513457.1:p.Gly1167Ala
ENST00000697839.1:n.4447G>C
ENST00000697840.1:c.3671G>C	ENSP00000513458.1:p.Gly1224Ala
ENST00000697841.1:n.4546G>C
ENST00000697842.1:n.3890G>C
ENST00000375394.7:c.3635G>C MANE Select	ENSP00000364543.2:p.Gly1212Ala
ENST00000375394.6:c.3635G>C	ENSP00000364543.2:p.Gly1212Ala
ENST00000465703.5:n.4365G>C
ENST00000471818.1:n.564G>C
ENST00000474839.5:c.*3007G>C	ENSP00000420470.1:n.*3007G>C
ENST00000483553.5:c.1165G>C
ENST00000491994.1:c.724G>C
NM_006929.4:c.3635G>C	NP_008860.4:p.Gly1212Ala
XR_926301.3:n.3651G>C
NM_006929.5:c.3635G>C MANE Select	NP_008860.4:p.Gly1212Ala