Canonical Allele Identifier: CA2678078830

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969443-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969443T>C , CM000668.2:g.31969443T>C	GRCh38
NC_000006.11:g.31937220T>C , CM000668.1:g.31937220T>C	GRCh37
NC_000006.10:g.32045199T>C	NCBI36
NG_032652.1:g.15640T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2517T>C	ENSP00000419905.1:n.*2517T>C
ENST00000483553.6:c.*530T>C	ENSP00000420332.2:n.*530T>C
ENST00000485349.6:n.4016+23T>C
ENST00000491994.2:c.*11T>C	ENSP00000417586.2:n.*11T>C
ENST00000494058.6:n.3842+23T>C
ENST00000697831.1:c.3471+23T>C	ENSP00000513453.1:n.3471+23T>C
ENST00000697832.1:n.3693+23T>C
ENST00000697833.1:c.*488+23T>C	ENSP00000513454.1:n.*488+23T>C
ENST00000697834.1:n.4187T>C
ENST00000697835.1:c.*3058+23T>C	ENSP00000513455.1:n.*3058+23T>C
ENST00000697836.1:n.3871+23T>C
ENST00000697837.1:c.*656+23T>C	ENSP00000513456.1:n.*656+23T>C
ENST00000697838.1:c.3405+23T>C	ENSP00000513457.1:n.3405+23T>C
ENST00000697839.1:n.4281T>C
ENST00000697840.1:c.3576+23T>C	ENSP00000513458.1:n.3576+23T>C
ENST00000697841.1:n.4380T>C
ENST00000697842.1:n.3795+23T>C
ENST00000375394.7:c.3540+23T>C MANE Select	ENSP00000364543.2:n.3540+23T>C
ENST00000375394.6:c.3540+23T>C	ENSP00000364543.2:n.3540+23T>C
ENST00000465703.5:n.4199T>C
ENST00000470453.1:n.383-72T>C
ENST00000471818.1:n.469+23T>C
ENST00000474839.5:c.*2912+23T>C	ENSP00000420470.1:n.*2912+23T>C
ENST00000483553.5:c.999T>C
ENST00000491994.1:c.558T>C
NM_006929.4:c.3540+23T>C	NP_008860.4:n.3540+23T>C
XR_001743586.2:n.3662T>C
XR_926301.3:n.3556+23T>C
NM_006929.5:c.3540+23T>C MANE Select	NP_008860.4:n.3540+23T>C