Canonical Allele Identifier: CA363492314

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937449T>A (hg19) ; chr6:g.31969672T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969672T>A , CM000668.2:g.31969672T>A	GRCh38
NC_000006.11:g.31937449T>A , CM000668.1:g.31937449T>A	GRCh37
NC_000006.10:g.32045428T>A	NCBI36
NG_032652.1:g.15869T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2746T>A	ENSP00000419905.1:n.*2746T>A
ENST00000485349.6:n.4174T>A
ENST00000491994.2:c.*240T>A	ENSP00000417586.2:n.*240T>A
ENST00000494058.6:n.4000T>A
ENST00000697831.1:c.3629T>A	ENSP00000513453.1:p.Leu1210Gln
ENST00000697832.1:n.3851T>A
ENST00000697834.1:n.4416T>A
ENST00000697835.1:c.*3216T>A	ENSP00000513455.1:n.*3216T>A
ENST00000697836.1:n.4052T>A
ENST00000697837.1:c.*814T>A	ENSP00000513456.1:n.*814T>A
ENST00000697838.1:c.3563T>A	ENSP00000513457.1:p.Leu1188Gln
ENST00000697839.1:n.4510T>A
ENST00000697840.1:c.3734T>A	ENSP00000513458.1:p.Leu1245Gln
ENST00000697841.1:n.4609T>A
ENST00000697842.1:n.3953T>A
ENST00000375394.7:c.3698T>A MANE Select	ENSP00000364543.2:p.Leu1233Gln
ENST00000375394.6:c.3698T>A	ENSP00000364543.2:p.Leu1233Gln
ENST00000465703.5:n.4428T>A
ENST00000471818.1:n.627T>A
ENST00000474839.5:c.*3070T>A	ENSP00000420470.1:n.*3070T>A
ENST00000483553.5:c.1228T>A
ENST00000491994.1:c.787T>A
NM_006929.4:c.3698T>A	NP_008860.4:p.Leu1233Gln
XR_926301.3:n.3714T>A
NM_006929.5:c.3698T>A MANE Select	NP_008860.4:p.Leu1233Gln