Canonical Allele Identifier: CA363490323

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937183T>A (hg19) ; chr6:g.31969406T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969406T>A , CM000668.2:g.31969406T>A	GRCh38
NC_000006.11:g.31937183T>A , CM000668.1:g.31937183T>A	GRCh37
NC_000006.10:g.32045162T>A	NCBI36
NG_032652.1:g.15603T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2480T>A	ENSP00000419905.1:n.*2480T>A
ENST00000483553.6:c.*493T>A	ENSP00000420332.2:n.*493T>A
ENST00000485349.6:n.4002T>A
ENST00000491994.2:c.3526T>A	ENSP00000417586.2:p.Trp1176Arg
ENST00000494058.6:n.3828T>A
ENST00000697831.1:c.3457T>A	ENSP00000513453.1:p.Trp1153Arg
ENST00000697832.1:n.3679T>A
ENST00000697833.1:c.*474T>A	ENSP00000513454.1:n.*474T>A
ENST00000697834.1:n.4150T>A
ENST00000697835.1:c.*3044T>A	ENSP00000513455.1:n.*3044T>A
ENST00000697836.1:n.3857T>A
ENST00000697837.1:c.*642T>A	ENSP00000513456.1:n.*642T>A
ENST00000697838.1:c.3391T>A	ENSP00000513457.1:p.Trp1131Arg
ENST00000697839.1:n.4244T>A
ENST00000697840.1:c.3562T>A	ENSP00000513458.1:p.Trp1188Arg
ENST00000697841.1:n.4343T>A
ENST00000697842.1:n.3781T>A
ENST00000375394.7:c.3526T>A MANE Select	ENSP00000364543.2:p.Trp1176Arg
ENST00000375394.6:c.3526T>A	ENSP00000364543.2:p.Trp1176Arg
ENST00000465703.5:n.4162T>A
ENST00000470453.1:n.382+90T>A
ENST00000471818.1:n.455T>A
ENST00000474839.5:c.*2898T>A	ENSP00000420470.1:n.*2898T>A
ENST00000483553.5:c.962T>A
ENST00000485349.5:n.732T>A
ENST00000491994.1:c.521T>A
NM_006929.4:c.3526T>A	NP_008860.4:p.Trp1176Arg
XR_001743586.2:n.3625T>A
XR_926301.3:n.3542T>A
NM_006929.5:c.3526T>A MANE Select	NP_008860.4:p.Trp1176Arg