Canonical Allele Identifier: CA2739912275

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969426T>A , CM000668.2:g.31969426T>A	GRCh38
NC_000006.11:g.31937203T>A , CM000668.1:g.31937203T>A	GRCh37
NC_000006.10:g.32045182T>A	NCBI36
NG_032652.1:g.15623T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2500T>A	ENSP00000419905.1:n.*2500T>A
ENST00000483553.6:c.*513T>A	ENSP00000420332.2:n.*513T>A
ENST00000485349.6:n.4016+6T>A
ENST00000491994.2:c.3546T>A	ENSP00000417586.2:p.Ser1182Arg
ENST00000494058.6:n.3842+6T>A
ENST00000697831.1:c.3471+6T>A	ENSP00000513453.1:n.3471+6T>A
ENST00000697832.1:n.3693+6T>A
ENST00000697833.1:c.*488+6T>A	ENSP00000513454.1:n.*488+6T>A
ENST00000697834.1:n.4170T>A
ENST00000697835.1:c.*3058+6T>A	ENSP00000513455.1:n.*3058+6T>A
ENST00000697836.1:n.3871+6T>A
ENST00000697837.1:c.*656+6T>A	ENSP00000513456.1:n.*656+6T>A
ENST00000697838.1:c.3405+6T>A	ENSP00000513457.1:n.3405+6T>A
ENST00000697839.1:n.4264T>A
ENST00000697840.1:c.3576+6T>A	ENSP00000513458.1:n.3576+6T>A
ENST00000697841.1:n.4363T>A
ENST00000697842.1:n.3795+6T>A
ENST00000375394.7:c.3540+6T>A MANE Select	ENSP00000364543.2:n.3540+6T>A
ENST00000375394.6:c.3540+6T>A	ENSP00000364543.2:n.3540+6T>A
ENST00000465703.5:n.4182T>A
ENST00000470453.1:n.383-89T>A
ENST00000471818.1:n.469+6T>A
ENST00000474839.5:c.*2912+6T>A	ENSP00000420470.1:n.*2912+6T>A
ENST00000483553.5:c.982T>A
ENST00000491994.1:c.541T>A
NM_006929.4:c.3540+6T>A	NP_008860.4:n.3540+6T>A
XR_001743586.2:n.3645T>A
XR_926301.3:n.3556+6T>A
NM_006929.5:c.3540+6T>A MANE Select	NP_008860.4:n.3540+6T>A