Canonical Allele Identifier: CA363490155

Gene: SKIC2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2460T>G	ENSP00000419905.1:n.*2460T>G
ENST00000483553.6:c.*473T>G	ENSP00000420332.2:n.*473T>G
ENST00000485349.6:n.3982T>G
ENST00000491994.2:c.3506T>G	ENSP00000417586.2:p.Leu1169Arg
ENST00000494058.6:n.3808T>G
ENST00000697831.1:c.3437T>G	ENSP00000513453.1:p.Leu1146Arg
ENST00000697832.1:n.3659T>G
ENST00000697833.1:c.*454T>G	ENSP00000513454.1:n.*454T>G
ENST00000697834.1:n.4130T>G
ENST00000697835.1:c.*3024T>G	ENSP00000513455.1:n.*3024T>G
ENST00000697836.1:n.3837T>G
ENST00000697837.1:c.*622T>G	ENSP00000513456.1:n.*622T>G
ENST00000697838.1:c.3371T>G	ENSP00000513457.1:p.Leu1124Arg
ENST00000697839.1:n.4224T>G
ENST00000697840.1:c.3542T>G	ENSP00000513458.1:p.Leu1181Arg
ENST00000697841.1:n.4323T>G
ENST00000697842.1:n.3761T>G
ENST00000375394.7:c.3506T>G MANE Select	ENSP00000364543.2:p.Leu1169Arg
ENST00000375394.6:c.3506T>G	ENSP00000364543.2:p.Leu1169Arg
ENST00000465703.5:n.4142T>G
ENST00000470453.1:n.382+70T>G
ENST00000471818.1:n.435T>G
ENST00000474839.5:c.*2878T>G	ENSP00000420470.1:n.*2878T>G
ENST00000483553.5:c.942T>G
ENST00000485349.5:n.712T>G
ENST00000491994.1:c.501T>G
NM_006929.4:c.3506T>G	NP_008860.4:p.Leu1169Arg
XR_001743586.2:n.3605T>G
XR_926301.3:n.3522T>G
NM_006929.5:c.3506T>G MANE Select	NP_008860.4:p.Leu1169Arg