Canonical Allele Identifier: CA363490151

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937163T>A (hg19) ; chr6:g.31969386T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969386T>A , CM000668.2:g.31969386T>A	GRCh38
NC_000006.11:g.31937163T>A , CM000668.1:g.31937163T>A	GRCh37
NC_000006.10:g.32045142T>A	NCBI36
NG_032652.1:g.15583T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2460T>A	ENSP00000419905.1:n.*2460T>A
ENST00000483553.6:c.*473T>A	ENSP00000420332.2:n.*473T>A
ENST00000485349.6:n.3982T>A
ENST00000491994.2:c.3506T>A	ENSP00000417586.2:p.Leu1169Gln
ENST00000494058.6:n.3808T>A
ENST00000697831.1:c.3437T>A	ENSP00000513453.1:p.Leu1146Gln
ENST00000697832.1:n.3659T>A
ENST00000697833.1:c.*454T>A	ENSP00000513454.1:n.*454T>A
ENST00000697834.1:n.4130T>A
ENST00000697835.1:c.*3024T>A	ENSP00000513455.1:n.*3024T>A
ENST00000697836.1:n.3837T>A
ENST00000697837.1:c.*622T>A	ENSP00000513456.1:n.*622T>A
ENST00000697838.1:c.3371T>A	ENSP00000513457.1:p.Leu1124Gln
ENST00000697839.1:n.4224T>A
ENST00000697840.1:c.3542T>A	ENSP00000513458.1:p.Leu1181Gln
ENST00000697841.1:n.4323T>A
ENST00000697842.1:n.3761T>A
ENST00000375394.7:c.3506T>A MANE Select	ENSP00000364543.2:p.Leu1169Gln
ENST00000375394.6:c.3506T>A	ENSP00000364543.2:p.Leu1169Gln
ENST00000465703.5:n.4142T>A
ENST00000470453.1:n.382+70T>A
ENST00000471818.1:n.435T>A
ENST00000474839.5:c.*2878T>A	ENSP00000420470.1:n.*2878T>A
ENST00000483553.5:c.942T>A
ENST00000485349.5:n.712T>A
ENST00000491994.1:c.501T>A
NM_006929.4:c.3506T>A	NP_008860.4:p.Leu1169Gln
XR_001743586.2:n.3605T>A
XR_926301.3:n.3522T>A
NM_006929.5:c.3506T>A MANE Select	NP_008860.4:p.Leu1169Gln