Canonical Allele Identifier: CA363489993

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969367-G-A
• MyVariant Identifiers: chr6:g.31937144G>A (hg19) ; chr6:g.31969367G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969367G>A , CM000668.2:g.31969367G>A	GRCh38
NC_000006.11:g.31937144G>A , CM000668.1:g.31937144G>A	GRCh37
NC_000006.10:g.32045123G>A	NCBI36
NG_032652.1:g.15564G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2441G>A	ENSP00000419905.1:n.*2441G>A
ENST00000483553.6:c.*454G>A	ENSP00000420332.2:n.*454G>A
ENST00000485349.6:n.3963G>A
ENST00000491994.2:c.3487G>A	ENSP00000417586.2:p.Gly1163Arg
ENST00000494058.6:n.3789G>A
ENST00000697831.1:c.3418G>A	ENSP00000513453.1:p.Gly1140Arg
ENST00000697832.1:n.3640G>A
ENST00000697833.1:c.*435G>A	ENSP00000513454.1:n.*435G>A
ENST00000697834.1:n.4111G>A
ENST00000697835.1:c.*3005G>A	ENSP00000513455.1:n.*3005G>A
ENST00000697836.1:n.3818G>A
ENST00000697837.1:c.*603G>A	ENSP00000513456.1:n.*603G>A
ENST00000697838.1:c.3352G>A	ENSP00000513457.1:p.Gly1118Arg
ENST00000697839.1:n.4205G>A
ENST00000697840.1:c.3523G>A	ENSP00000513458.1:p.Gly1175Arg
ENST00000697841.1:n.4304G>A
ENST00000697842.1:n.3742G>A
ENST00000375394.7:c.3487G>A MANE Select	ENSP00000364543.2:p.Gly1163Arg
ENST00000375394.6:c.3487G>A	ENSP00000364543.2:p.Gly1163Arg
ENST00000465703.5:n.4123G>A
ENST00000470453.1:n.382+51G>A
ENST00000471818.1:n.416G>A
ENST00000474839.5:c.*2859G>A	ENSP00000420470.1:n.*2859G>A
ENST00000483553.5:c.923G>A
ENST00000485349.5:n.693G>A
ENST00000491994.1:c.482G>A
NM_006929.4:c.3487G>A	NP_008860.4:p.Gly1163Arg
XR_001743586.2:n.3586G>A
XR_926301.3:n.3503G>A
NM_006929.5:c.3487G>A MANE Select	NP_008860.4:p.Gly1163Arg