Canonical Allele Identifier: CA363491518

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937372T>A (hg19) ; chr6:g.31969595T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969595T>A , CM000668.2:g.31969595T>A	GRCh38
NC_000006.11:g.31937372T>A , CM000668.1:g.31937372T>A	GRCh37
NC_000006.10:g.32045351T>A	NCBI36
NG_032652.1:g.15792T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2669T>A	ENSP00000419905.1:n.*2669T>A
ENST00000485349.6:n.4097T>A
ENST00000491994.2:c.*163T>A	ENSP00000417586.2:n.*163T>A
ENST00000494058.6:n.3923T>A
ENST00000697831.1:c.3552T>A	ENSP00000513453.1:p.Cys1184Ter
ENST00000697832.1:n.3774T>A
ENST00000697834.1:n.4339T>A
ENST00000697835.1:c.*3139T>A	ENSP00000513455.1:n.*3139T>A
ENST00000697836.1:n.3975T>A
ENST00000697837.1:c.*737T>A	ENSP00000513456.1:n.*737T>A
ENST00000697838.1:c.3486T>A	ENSP00000513457.1:p.Cys1162Ter
ENST00000697839.1:n.4433T>A
ENST00000697840.1:c.3657T>A	ENSP00000513458.1:p.Cys1219Ter
ENST00000697841.1:n.4532T>A
ENST00000697842.1:n.3876T>A
ENST00000375394.7:c.3621T>A MANE Select	ENSP00000364543.2:p.Cys1207Ter
ENST00000375394.6:c.3621T>A	ENSP00000364543.2:p.Cys1207Ter
ENST00000465703.5:n.4351T>A
ENST00000471818.1:n.550T>A
ENST00000474839.5:c.*2993T>A	ENSP00000420470.1:n.*2993T>A
ENST00000483553.5:c.1151T>A
ENST00000491994.1:c.710T>A
NM_006929.4:c.3621T>A	NP_008860.4:p.Cys1207Ter
XR_926301.3:n.3637T>A
NM_006929.5:c.3621T>A MANE Select	NP_008860.4:p.Cys1207Ter