Canonical Allele Identifier: CA449814248

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937465A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969688A>G , CM000668.2:g.31969688A>G	GRCh38
NC_000006.11:g.31937465A>G , CM000668.1:g.31937465A>G	GRCh37
NC_000006.10:g.32045444A>G	NCBI36
NG_032652.1:g.15885A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2762A>G	ENSP00000419905.1:n.*2762A>G
ENST00000485349.6:n.4190A>G
ENST00000491994.2:c.*256A>G	ENSP00000417586.2:n.*256A>G
ENST00000494058.6:n.4016A>G
ENST00000697831.1:c.3645A>G	ENSP00000513453.1:p.Val1215=
ENST00000697832.1:n.3867A>G
ENST00000697834.1:n.4432A>G
ENST00000697835.1:c.*3232A>G	ENSP00000513455.1:n.*3232A>G
ENST00000697836.1:n.4068A>G
ENST00000697837.1:c.*830A>G	ENSP00000513456.1:n.*830A>G
ENST00000697838.1:c.3579A>G	ENSP00000513457.1:p.Val1193=
ENST00000697839.1:n.4526A>G
ENST00000697840.1:c.3750A>G	ENSP00000513458.1:p.Val1250=
ENST00000697841.1:n.4625A>G
ENST00000697842.1:n.3969A>G
ENST00000375394.7:c.3714A>G MANE Select	ENSP00000364543.2:p.Val1238=
ENST00000375394.6:c.3714A>G	ENSP00000364543.2:p.Val1238=
ENST00000465703.5:n.4444A>G
ENST00000471818.1:n.643A>G
ENST00000474839.5:c.*3086A>G	ENSP00000420470.1:n.*3086A>G
ENST00000483553.5:c.1244A>G
ENST00000491994.1:c.803A>G
NM_006929.4:c.3714A>G	NP_008860.4:p.Val1238=
XR_926301.3:n.3730A>G
NM_006929.5:c.3714A>G MANE Select	NP_008860.4:p.Val1238=