Canonical Allele Identifier: CA2678079039

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969743-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969743A>G , CM000668.2:g.31969743A>G	GRCh38
NC_000006.11:g.31937520A>G , CM000668.1:g.31937520A>G	GRCh37
NC_000006.10:g.32045499A>G	NCBI36
NG_032652.1:g.15940A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2817A>G	ENSP00000419905.1:n.*2817A>G
ENST00000697831.1:c.*28A>G	ENSP00000513453.1:n.*28A>G
ENST00000697835.1:c.*3287A>G	ENSP00000513455.1:n.*3287A>G
ENST00000697838.1:c.*28A>G	ENSP00000513457.1:n.*28A>G
ENST00000375394.7:c.*28A>G MANE Select	ENSP00000364543.2:n.*28A>G
ENST00000375394.6:c.*28A>G	ENSP00000364543.2:n.*28A>G
ENST00000465703.5:n.4499A>G
ENST00000471818.1:n.698A>G
ENST00000474839.5:c.*3141A>G	ENSP00000420470.1:n.*3141A>G
ENST00000483553.5:c.1299A>G
ENST00000491994.1:c.858A>G
NM_006929.4:c.*28A>G	NP_008860.4:n.*28A>G
XR_926301.3:n.3785A>G
NM_006929.5:c.*28A>G MANE Select	NP_008860.4:n.*28A>G