Canonical Allele Identifier: CA1619384350

Gene: SKIC2

Linked Data

• dbSNP Id: rs1773035127
• gnomAD v4: 6-31969430-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969430T>C , CM000668.2:g.31969430T>C	GRCh38
NC_000006.11:g.31937207T>C , CM000668.1:g.31937207T>C	GRCh37
NC_000006.10:g.32045186T>C	NCBI36
NG_032652.1:g.15627T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2504T>C	ENSP00000419905.1:n.*2504T>C
ENST00000483553.6:c.*517T>C	ENSP00000420332.2:n.*517T>C
ENST00000485349.6:n.4016+10T>C
ENST00000491994.2:c.3550T>C	ENSP00000417586.2:p.Ter1184Arg
ENST00000494058.6:n.3842+10T>C
ENST00000697831.1:c.3471+10T>C	ENSP00000513453.1:n.3471+10T>C
ENST00000697832.1:n.3693+10T>C
ENST00000697833.1:c.*488+10T>C	ENSP00000513454.1:n.*488+10T>C
ENST00000697834.1:n.4174T>C
ENST00000697835.1:c.*3058+10T>C	ENSP00000513455.1:n.*3058+10T>C
ENST00000697836.1:n.3871+10T>C
ENST00000697837.1:c.*656+10T>C	ENSP00000513456.1:n.*656+10T>C
ENST00000697838.1:c.3405+10T>C	ENSP00000513457.1:n.3405+10T>C
ENST00000697839.1:n.4268T>C
ENST00000697840.1:c.3576+10T>C	ENSP00000513458.1:n.3576+10T>C
ENST00000697841.1:n.4367T>C
ENST00000697842.1:n.3795+10T>C
ENST00000375394.7:c.3540+10T>C MANE Select	ENSP00000364543.2:n.3540+10T>C
ENST00000375394.6:c.3540+10T>C	ENSP00000364543.2:n.3540+10T>C
ENST00000465703.5:n.4186T>C
ENST00000470453.1:n.383-85T>C
ENST00000471818.1:n.469+10T>C
ENST00000474839.5:c.*2912+10T>C	ENSP00000420470.1:n.*2912+10T>C
ENST00000483553.5:c.986T>C
ENST00000491994.1:c.545T>C
NM_006929.4:c.3540+10T>C	NP_008860.4:n.3540+10T>C
XR_001743586.2:n.3649T>C
XR_926301.3:n.3556+10T>C
NM_006929.5:c.3540+10T>C MANE Select	NP_008860.4:n.3540+10T>C