Canonical Allele Identifier: CA1087494608

Gene: SKIC2

Linked Data

• dbSNP Id: rs1773038865
• gnomAD v3: 6-31969477-G-C
• gnomAD v4: 6-31969477-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969477G>C , CM000668.2:g.31969477G>C	GRCh38
NC_000006.11:g.31937254G>C , CM000668.1:g.31937254G>C	GRCh37
NC_000006.10:g.32045233G>C	NCBI36
NG_032652.1:g.15674G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2551G>C	ENSP00000419905.1:n.*2551G>C
ENST00000483553.6:c.*564G>C	ENSP00000420332.2:n.*564G>C
ENST00000485349.6:n.4017-38G>C
ENST00000491994.2:c.*45G>C	ENSP00000417586.2:n.*45G>C
ENST00000494058.6:n.3843-38G>C
ENST00000697831.1:c.3472-38G>C	ENSP00000513453.1:n.3472-38G>C
ENST00000697832.1:n.3694-38G>C
ENST00000697833.1:c.*489-38G>C	ENSP00000513454.1:n.*489-38G>C
ENST00000697834.1:n.4221G>C
ENST00000697835.1:c.*3059-38G>C	ENSP00000513455.1:n.*3059-38G>C
ENST00000697836.1:n.3872-15G>C
ENST00000697837.1:c.*657-38G>C	ENSP00000513456.1:n.*657-38G>C
ENST00000697838.1:c.3406-38G>C	ENSP00000513457.1:n.3406-38G>C
ENST00000697839.1:n.4315G>C
ENST00000697840.1:c.3577-38G>C	ENSP00000513458.1:n.3577-38G>C
ENST00000697841.1:n.4414G>C
ENST00000697842.1:n.3796-38G>C
ENST00000375394.7:c.3541-38G>C MANE Select	ENSP00000364543.2:n.3541-38G>C
ENST00000375394.6:c.3541-38G>C	ENSP00000364543.2:n.3541-38G>C
ENST00000465703.5:n.4233G>C
ENST00000470453.1:n.383-38G>C
ENST00000471818.1:n.470-38G>C
ENST00000474839.5:c.*2913-38G>C	ENSP00000420470.1:n.*2913-38G>C
ENST00000483553.5:c.1033G>C
ENST00000491994.1:c.592G>C
NM_006929.4:c.3541-38G>C	NP_008860.4:n.3541-38G>C
XR_001743586.2:n.3696G>C
XR_926301.3:n.3557-38G>C
NM_006929.5:c.3541-38G>C MANE Select	NP_008860.4:n.3541-38G>C