Canonical Allele Identifier: CA2678079038

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969742-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969742A>G , CM000668.2:g.31969742A>G	GRCh38
NC_000006.11:g.31937519A>G , CM000668.1:g.31937519A>G	GRCh37
NC_000006.10:g.32045498A>G	NCBI36
NG_032652.1:g.15939A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2816A>G	ENSP00000419905.1:n.*2816A>G
ENST00000697831.1:c.*27A>G	ENSP00000513453.1:n.*27A>G
ENST00000697835.1:c.*3286A>G	ENSP00000513455.1:n.*3286A>G
ENST00000697838.1:c.*27A>G	ENSP00000513457.1:n.*27A>G
ENST00000375394.7:c.*27A>G MANE Select	ENSP00000364543.2:n.*27A>G
ENST00000375394.6:c.*27A>G	ENSP00000364543.2:n.*27A>G
ENST00000465703.5:n.4498A>G
ENST00000471818.1:n.697A>G
ENST00000474839.5:c.*3140A>G	ENSP00000420470.1:n.*3140A>G
ENST00000483553.5:c.1298A>G
ENST00000491994.1:c.857A>G
NM_006929.4:c.*27A>G	NP_008860.4:n.*27A>G
XR_926301.3:n.3784A>G
NM_006929.5:c.*27A>G MANE Select	NP_008860.4:n.*27A>G