Canonical Allele Identifier: CA363492663

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937488A>G (hg19) ; chr6:g.31969711A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969711A>G , CM000668.2:g.31969711A>G	GRCh38
NC_000006.11:g.31937488A>G , CM000668.1:g.31937488A>G	GRCh37
NC_000006.10:g.32045467A>G	NCBI36
NG_032652.1:g.15908A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2785A>G	ENSP00000419905.1:n.*2785A>G
ENST00000485349.6:n.4213A>G
ENST00000491994.2:c.*279A>G	ENSP00000417586.2:n.*279A>G
ENST00000494058.6:n.4039A>G
ENST00000697831.1:c.3668A>G	ENSP00000513453.1:p.Gln1223Arg
ENST00000697832.1:n.3890A>G
ENST00000697834.1:n.4455A>G
ENST00000697835.1:c.*3255A>G	ENSP00000513455.1:n.*3255A>G
ENST00000697837.1:c.*853A>G	ENSP00000513456.1:n.*853A>G
ENST00000697838.1:c.3602A>G	ENSP00000513457.1:p.Gln1201Arg
ENST00000697839.1:n.4549A>G
ENST00000697840.1:c.3773A>G	ENSP00000513458.1:p.Gln1258Arg
ENST00000697841.1:n.4648A>G
ENST00000697842.1:n.3992A>G
ENST00000375394.7:c.3737A>G MANE Select	ENSP00000364543.2:p.Gln1246Arg
ENST00000375394.6:c.3737A>G	ENSP00000364543.2:p.Gln1246Arg
ENST00000465703.5:n.4467A>G
ENST00000471818.1:n.666A>G
ENST00000474839.5:c.*3109A>G	ENSP00000420470.1:n.*3109A>G
ENST00000483553.5:c.1267A>G
ENST00000491994.1:c.826A>G
NM_006929.4:c.3737A>G	NP_008860.4:p.Gln1246Arg
XR_926301.3:n.3753A>G
NM_006929.5:c.3737A>G MANE Select	NP_008860.4:p.Gln1246Arg