Canonical Allele Identifier: CA363492624

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937485C>T (hg19) ; chr6:g.31969708C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969708C>T , CM000668.2:g.31969708C>T	GRCh38
NC_000006.11:g.31937485C>T , CM000668.1:g.31937485C>T	GRCh37
NC_000006.10:g.32045464C>T	NCBI36
NG_032652.1:g.15905C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2782C>T	ENSP00000419905.1:n.*2782C>T
ENST00000485349.6:n.4210C>T
ENST00000491994.2:c.*276C>T	ENSP00000417586.2:n.*276C>T
ENST00000494058.6:n.4036C>T
ENST00000697831.1:c.3665C>T	ENSP00000513453.1:p.Thr1222Ile
ENST00000697832.1:n.3887C>T
ENST00000697834.1:n.4452C>T
ENST00000697835.1:c.*3252C>T	ENSP00000513455.1:n.*3252C>T
ENST00000697837.1:c.*850C>T	ENSP00000513456.1:n.*850C>T
ENST00000697838.1:c.3599C>T	ENSP00000513457.1:p.Thr1200Ile
ENST00000697839.1:n.4546C>T
ENST00000697840.1:c.3770C>T	ENSP00000513458.1:p.Thr1257Ile
ENST00000697841.1:n.4645C>T
ENST00000697842.1:n.3989C>T
ENST00000375394.7:c.3734C>T MANE Select	ENSP00000364543.2:p.Thr1245Ile
ENST00000375394.6:c.3734C>T	ENSP00000364543.2:p.Thr1245Ile
ENST00000465703.5:n.4464C>T
ENST00000471818.1:n.663C>T
ENST00000474839.5:c.*3106C>T	ENSP00000420470.1:n.*3106C>T
ENST00000483553.5:c.1264C>T
ENST00000491994.1:c.823C>T
NM_006929.4:c.3734C>T	NP_008860.4:p.Thr1245Ile
XR_926301.3:n.3750C>T
NM_006929.5:c.3734C>T MANE Select	NP_008860.4:p.Thr1245Ile