Canonical Allele Identifier: CA363489968

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937138T>G (hg19) ; chr6:g.31969361T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969361T>G , CM000668.2:g.31969361T>G	GRCh38
NC_000006.11:g.31937138T>G , CM000668.1:g.31937138T>G	GRCh37
NC_000006.10:g.32045117T>G	NCBI36
NG_032652.1:g.15558T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2435T>G	ENSP00000419905.1:n.*2435T>G
ENST00000483553.6:c.*448T>G	ENSP00000420332.2:n.*448T>G
ENST00000485349.6:n.3957T>G
ENST00000491994.2:c.3481T>G	ENSP00000417586.2:p.Phe1161Val
ENST00000494058.6:n.3783T>G
ENST00000697831.1:c.3412T>G	ENSP00000513453.1:p.Phe1138Val
ENST00000697832.1:n.3634T>G
ENST00000697833.1:c.*429T>G	ENSP00000513454.1:n.*429T>G
ENST00000697834.1:n.4105T>G
ENST00000697835.1:c.*2999T>G	ENSP00000513455.1:n.*2999T>G
ENST00000697836.1:n.3812T>G
ENST00000697837.1:c.*597T>G	ENSP00000513456.1:n.*597T>G
ENST00000697838.1:c.3346T>G	ENSP00000513457.1:p.Phe1116Val
ENST00000697839.1:n.4199T>G
ENST00000697840.1:c.3517T>G	ENSP00000513458.1:p.Phe1173Val
ENST00000697841.1:n.4298T>G
ENST00000697842.1:n.3736T>G
ENST00000375394.7:c.3481T>G MANE Select	ENSP00000364543.2:p.Phe1161Val
ENST00000375394.6:c.3481T>G	ENSP00000364543.2:p.Phe1161Val
ENST00000465703.5:n.4117T>G
ENST00000470453.1:n.382+45T>G
ENST00000471818.1:n.410T>G
ENST00000474839.5:c.*2853T>G	ENSP00000420470.1:n.*2853T>G
ENST00000483553.5:c.917T>G
ENST00000485349.5:n.687T>G
ENST00000491994.1:c.476T>G
NM_006929.4:c.3481T>G	NP_008860.4:p.Phe1161Val
XR_001743586.2:n.3580T>G
XR_926301.3:n.3497T>G
NM_006929.5:c.3481T>G MANE Select	NP_008860.4:p.Phe1161Val