Canonical Allele Identifier: CA2678079036
Gene: SKIC2 HGNC NCBI

Linked Data

gnomAD v4: 6-31969741-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969741A>G , CM000668.2:g.31969741A>G GRCh38
NC_000006.11:g.31937518A>G , CM000668.1:g.31937518A>G GRCh37
NC_000006.10:g.32045497A>G NCBI36
NG_032652.1:g.15938A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2815A>G ENSP00000419905.1:n.*2815A>G
ENST00000697831.1:c.*26A>G ENSP00000513453.1:n.*26A>G
ENST00000697835.1:c.*3285A>G ENSP00000513455.1:n.*3285A>G
ENST00000697838.1:c.*26A>G ENSP00000513457.1:n.*26A>G
ENST00000375394.7:c.*26A>G MANE Select ENSP00000364543.2:n.*26A>G
ENST00000375394.6:c.*26A>G ENSP00000364543.2:n.*26A>G
ENST00000465703.5:n.4497A>G
ENST00000471818.1:n.696A>G
ENST00000474839.5:c.*3139A>G ENSP00000420470.1:n.*3139A>G
ENST00000483553.5:c.1297A>G
ENST00000491994.1:c.856A>G
NM_006929.4:c.*26A>G NP_008860.4:n.*26A>G
XR_926301.3:n.3783A>G
NM_006929.5:c.*26A>G MANE Select NP_008860.4:n.*26A>G