Canonical Allele Identifier: CA363492706

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937492A>T (hg19) ; chr6:g.31969715A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969715A>T , CM000668.2:g.31969715A>T	GRCh38
NC_000006.11:g.31937492A>T , CM000668.1:g.31937492A>T	GRCh37
NC_000006.10:g.32045471A>T	NCBI36
NG_032652.1:g.15912A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2789A>T	ENSP00000419905.1:n.*2789A>T
ENST00000485349.6:n.4217A>T
ENST00000491994.2:c.*283A>T	ENSP00000417586.2:n.*283A>T
ENST00000494058.6:n.4043A>T
ENST00000697831.1:c.3672A>T	ENSP00000513453.1:p.Ter1224Cys
ENST00000697832.1:n.3894A>T
ENST00000697834.1:n.4459A>T
ENST00000697835.1:c.*3259A>T	ENSP00000513455.1:n.*3259A>T
ENST00000697837.1:c.*857A>T	ENSP00000513456.1:n.*857A>T
ENST00000697838.1:c.3606A>T	ENSP00000513457.1:p.Ter1202Cys
ENST00000697839.1:n.4553A>T
ENST00000697840.1:c.3777A>T	ENSP00000513458.1:p.Ter1259Cys
ENST00000697841.1:n.4652A>T
ENST00000697842.1:n.3996A>T
ENST00000375394.7:c.3741A>T MANE Select	ENSP00000364543.2:p.Ter1247Cys
ENST00000375394.6:c.3741A>T	ENSP00000364543.2:p.Ter1247Cys
ENST00000465703.5:n.4471A>T
ENST00000471818.1:n.670A>T
ENST00000474839.5:c.*3113A>T	ENSP00000420470.1:n.*3113A>T
ENST00000483553.5:c.1271A>T
ENST00000491994.1:c.830A>T
NM_006929.4:c.3741A>T	NP_008860.4:p.Ter1247Cys
XR_926301.3:n.3757A>T
NM_006929.5:c.3741A>T MANE Select	NP_008860.4:p.Ter1247Cys