Canonical Allele Identifier: CA363491226

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937348C>G (hg19) ; chr6:g.31969571C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969571C>G , CM000668.2:g.31969571C>G	GRCh38
NC_000006.11:g.31937348C>G , CM000668.1:g.31937348C>G	GRCh37
NC_000006.10:g.32045327C>G	NCBI36
NG_032652.1:g.15768C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2645C>G	ENSP00000419905.1:n.*2645C>G
ENST00000485349.6:n.4073C>G
ENST00000491994.2:c.*139C>G	ENSP00000417586.2:n.*139C>G
ENST00000494058.6:n.3899C>G
ENST00000697831.1:c.3528C>G	ENSP00000513453.1:p.Cys1176Trp
ENST00000697832.1:n.3750C>G
ENST00000697833.1:c.*545C>G	ENSP00000513454.1:n.*545C>G
ENST00000697834.1:n.4315C>G
ENST00000697835.1:c.*3115C>G	ENSP00000513455.1:n.*3115C>G
ENST00000697836.1:n.3951C>G
ENST00000697837.1:c.*713C>G	ENSP00000513456.1:n.*713C>G
ENST00000697838.1:c.3462C>G	ENSP00000513457.1:p.Cys1154Trp
ENST00000697839.1:n.4409C>G
ENST00000697840.1:c.3633C>G	ENSP00000513458.1:p.Cys1211Trp
ENST00000697841.1:n.4508C>G
ENST00000697842.1:n.3852C>G
ENST00000375394.7:c.3597C>G MANE Select	ENSP00000364543.2:p.Cys1199Trp
ENST00000375394.6:c.3597C>G	ENSP00000364543.2:p.Cys1199Trp
ENST00000465703.5:n.4327C>G
ENST00000470453.1:n.439C>G
ENST00000471818.1:n.526C>G
ENST00000474839.5:c.*2969C>G	ENSP00000420470.1:n.*2969C>G
ENST00000483553.5:c.1127C>G
ENST00000491994.1:c.686C>G
NM_006929.4:c.3597C>G	NP_008860.4:p.Cys1199Trp
XR_926301.3:n.3613C>G
NM_006929.5:c.3597C>G MANE Select	NP_008860.4:p.Cys1199Trp