Canonical Allele Identifier: CA363491019

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937325C>A (hg19) ; chr6:g.31969548C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969548C>A , CM000668.2:g.31969548C>A	GRCh38
NC_000006.11:g.31937325C>A , CM000668.1:g.31937325C>A	GRCh37
NC_000006.10:g.32045304C>A	NCBI36
NG_032652.1:g.15745C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2622C>A	ENSP00000419905.1:n.*2622C>A
ENST00000485349.6:n.4050C>A
ENST00000491994.2:c.*116C>A	ENSP00000417586.2:n.*116C>A
ENST00000494058.6:n.3876C>A
ENST00000697831.1:c.3505C>A	ENSP00000513453.1:p.Pro1169Thr
ENST00000697832.1:n.3727C>A
ENST00000697833.1:c.*522C>A	ENSP00000513454.1:n.*522C>A
ENST00000697834.1:n.4292C>A
ENST00000697835.1:c.*3092C>A	ENSP00000513455.1:n.*3092C>A
ENST00000697836.1:n.3928C>A
ENST00000697837.1:c.*690C>A	ENSP00000513456.1:n.*690C>A
ENST00000697838.1:c.3439C>A	ENSP00000513457.1:p.Pro1147Thr
ENST00000697839.1:n.4386C>A
ENST00000697840.1:c.3610C>A	ENSP00000513458.1:p.Pro1204Thr
ENST00000697841.1:n.4485C>A
ENST00000697842.1:n.3829C>A
ENST00000375394.7:c.3574C>A MANE Select	ENSP00000364543.2:p.Pro1192Thr
ENST00000375394.6:c.3574C>A	ENSP00000364543.2:p.Pro1192Thr
ENST00000465703.5:n.4304C>A
ENST00000470453.1:n.416C>A
ENST00000471818.1:n.503C>A
ENST00000474839.5:c.*2946C>A	ENSP00000420470.1:n.*2946C>A
ENST00000483553.5:c.1104C>A
ENST00000491994.1:c.663C>A
NM_006929.4:c.3574C>A	NP_008860.4:p.Pro1192Thr
XR_926301.3:n.3590C>A
NM_006929.5:c.3574C>A MANE Select	NP_008860.4:p.Pro1192Thr