Canonical Allele Identifier: CA363490682

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937299C>G (hg19) ; chr6:g.31969522C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969522C>G , CM000668.2:g.31969522C>G	GRCh38
NC_000006.11:g.31937299C>G , CM000668.1:g.31937299C>G	GRCh37
NC_000006.10:g.32045278C>G	NCBI36
NG_032652.1:g.15719C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2596C>G	ENSP00000419905.1:n.*2596C>G
ENST00000485349.6:n.4024C>G
ENST00000491994.2:c.*90C>G	ENSP00000417586.2:n.*90C>G
ENST00000494058.6:n.3850C>G
ENST00000697831.1:c.3479C>G	ENSP00000513453.1:p.Ser1160Cys
ENST00000697832.1:n.3701C>G
ENST00000697833.1:c.*496C>G	ENSP00000513454.1:n.*496C>G
ENST00000697834.1:n.4266C>G
ENST00000697835.1:c.*3066C>G	ENSP00000513455.1:n.*3066C>G
ENST00000697836.1:n.3902C>G
ENST00000697837.1:c.*664C>G	ENSP00000513456.1:n.*664C>G
ENST00000697838.1:c.3413C>G	ENSP00000513457.1:p.Ser1138Cys
ENST00000697839.1:n.4360C>G
ENST00000697840.1:c.3584C>G	ENSP00000513458.1:p.Ser1195Cys
ENST00000697841.1:n.4459C>G
ENST00000697842.1:n.3803C>G
ENST00000375394.7:c.3548C>G MANE Select	ENSP00000364543.2:p.Ser1183Cys
ENST00000375394.6:c.3548C>G	ENSP00000364543.2:p.Ser1183Cys
ENST00000465703.5:n.4278C>G
ENST00000470453.1:n.390C>G
ENST00000471818.1:n.477C>G
ENST00000474839.5:c.*2920C>G	ENSP00000420470.1:n.*2920C>G
ENST00000483553.5:c.1078C>G
ENST00000491994.1:c.637C>G
NM_006929.4:c.3548C>G	NP_008860.4:p.Ser1183Cys
XR_926301.3:n.3564C>G
NM_006929.5:c.3548C>G MANE Select	NP_008860.4:p.Ser1183Cys