Canonical Allele Identifier: CA363489981

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937140T>A (hg19) ; chr6:g.31969363T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969363T>A , CM000668.2:g.31969363T>A	GRCh38
NC_000006.11:g.31937140T>A , CM000668.1:g.31937140T>A	GRCh37
NC_000006.10:g.32045119T>A	NCBI36
NG_032652.1:g.15560T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2437T>A	ENSP00000419905.1:n.*2437T>A
ENST00000483553.6:c.*450T>A	ENSP00000420332.2:n.*450T>A
ENST00000485349.6:n.3959T>A
ENST00000491994.2:c.3483T>A	ENSP00000417586.2:p.Phe1161Leu
ENST00000494058.6:n.3785T>A
ENST00000697831.1:c.3414T>A	ENSP00000513453.1:p.Phe1138Leu
ENST00000697832.1:n.3636T>A
ENST00000697833.1:c.*431T>A	ENSP00000513454.1:n.*431T>A
ENST00000697834.1:n.4107T>A
ENST00000697835.1:c.*3001T>A	ENSP00000513455.1:n.*3001T>A
ENST00000697836.1:n.3814T>A
ENST00000697837.1:c.*599T>A	ENSP00000513456.1:n.*599T>A
ENST00000697838.1:c.3348T>A	ENSP00000513457.1:p.Phe1116Leu
ENST00000697839.1:n.4201T>A
ENST00000697840.1:c.3519T>A	ENSP00000513458.1:p.Phe1173Leu
ENST00000697841.1:n.4300T>A
ENST00000697842.1:n.3738T>A
ENST00000375394.7:c.3483T>A MANE Select	ENSP00000364543.2:p.Phe1161Leu
ENST00000375394.6:c.3483T>A	ENSP00000364543.2:p.Phe1161Leu
ENST00000465703.5:n.4119T>A
ENST00000470453.1:n.382+47T>A
ENST00000471818.1:n.412T>A
ENST00000474839.5:c.*2855T>A	ENSP00000420470.1:n.*2855T>A
ENST00000483553.5:c.919T>A
ENST00000485349.5:n.689T>A
ENST00000491994.1:c.478T>A
NM_006929.4:c.3483T>A	NP_008860.4:p.Phe1161Leu
XR_001743586.2:n.3582T>A
XR_926301.3:n.3499T>A
NM_006929.5:c.3483T>A MANE Select	NP_008860.4:p.Phe1161Leu