Canonical Allele Identifier: CA363489972

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937139T>G (hg19) ; chr6:g.31969362T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969362T>G , CM000668.2:g.31969362T>G	GRCh38
NC_000006.11:g.31937139T>G , CM000668.1:g.31937139T>G	GRCh37
NC_000006.10:g.32045118T>G	NCBI36
NG_032652.1:g.15559T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2436T>G	ENSP00000419905.1:n.*2436T>G
ENST00000483553.6:c.*449T>G	ENSP00000420332.2:n.*449T>G
ENST00000485349.6:n.3958T>G
ENST00000491994.2:c.3482T>G	ENSP00000417586.2:p.Phe1161Cys
ENST00000494058.6:n.3784T>G
ENST00000697831.1:c.3413T>G	ENSP00000513453.1:p.Phe1138Cys
ENST00000697832.1:n.3635T>G
ENST00000697833.1:c.*430T>G	ENSP00000513454.1:n.*430T>G
ENST00000697834.1:n.4106T>G
ENST00000697835.1:c.*3000T>G	ENSP00000513455.1:n.*3000T>G
ENST00000697836.1:n.3813T>G
ENST00000697837.1:c.*598T>G	ENSP00000513456.1:n.*598T>G
ENST00000697838.1:c.3347T>G	ENSP00000513457.1:p.Phe1116Cys
ENST00000697839.1:n.4200T>G
ENST00000697840.1:c.3518T>G	ENSP00000513458.1:p.Phe1173Cys
ENST00000697841.1:n.4299T>G
ENST00000697842.1:n.3737T>G
ENST00000375394.7:c.3482T>G MANE Select	ENSP00000364543.2:p.Phe1161Cys
ENST00000375394.6:c.3482T>G	ENSP00000364543.2:p.Phe1161Cys
ENST00000465703.5:n.4118T>G
ENST00000470453.1:n.382+46T>G
ENST00000471818.1:n.411T>G
ENST00000474839.5:c.*2854T>G	ENSP00000420470.1:n.*2854T>G
ENST00000483553.5:c.918T>G
ENST00000485349.5:n.688T>G
ENST00000491994.1:c.477T>G
NM_006929.4:c.3482T>G	NP_008860.4:p.Phe1161Cys
XR_001743586.2:n.3581T>G
XR_926301.3:n.3498T>G
NM_006929.5:c.3482T>G MANE Select	NP_008860.4:p.Phe1161Cys