Canonical Allele Identifier: CA449813819

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937116C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969339C>A , CM000668.2:g.31969339C>A	GRCh38
NC_000006.11:g.31937116C>A , CM000668.1:g.31937116C>A	GRCh37
NC_000006.10:g.32045095C>A	NCBI36
NG_032652.1:g.15536C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2413C>A	ENSP00000419905.1:n.*2413C>A
ENST00000483553.6:c.*426C>A	ENSP00000420332.2:n.*426C>A
ENST00000485349.6:n.3935C>A
ENST00000491994.2:c.3459C>A	ENSP00000417586.2:p.Gly1153=
ENST00000494058.6:n.3761C>A
ENST00000697831.1:c.3390C>A	ENSP00000513453.1:p.Gly1130=
ENST00000697832.1:n.3612C>A
ENST00000697833.1:c.*407C>A	ENSP00000513454.1:n.*407C>A
ENST00000697834.1:n.4083C>A
ENST00000697835.1:c.*2977C>A	ENSP00000513455.1:n.*2977C>A
ENST00000697836.1:n.3790C>A
ENST00000697837.1:c.*575C>A	ENSP00000513456.1:n.*575C>A
ENST00000697838.1:c.3324C>A	ENSP00000513457.1:p.Gly1108=
ENST00000697839.1:n.4177C>A
ENST00000697840.1:c.3495C>A	ENSP00000513458.1:p.Gly1165=
ENST00000697841.1:n.4276C>A
ENST00000697842.1:n.3714C>A
ENST00000375394.7:c.3459C>A MANE Select	ENSP00000364543.2:p.Gly1153=
ENST00000375394.6:c.3459C>A	ENSP00000364543.2:p.Gly1153=
ENST00000465703.5:n.4095C>A
ENST00000470453.1:n.382+23C>A
ENST00000471818.1:n.388C>A
ENST00000474839.5:c.*2831C>A	ENSP00000420470.1:n.*2831C>A
ENST00000483553.5:c.895C>A
ENST00000485349.5:n.665C>A
ENST00000491994.1:c.454C>A
NM_006929.4:c.3459C>A	NP_008860.4:p.Gly1153=
XR_001743586.2:n.3558C>A
XR_926301.3:n.3475C>A
NM_006929.5:c.3459C>A MANE Select	NP_008860.4:p.Gly1153=