Canonical Allele Identifier: CA2678079049
Gene: SKIC2 HGNC NCBI

Linked Data

gnomAD v4: 6-31969755-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969755C>A , CM000668.2:g.31969755C>A GRCh38
NC_000006.11:g.31937532C>A , CM000668.1:g.31937532C>A GRCh37
NC_000006.10:g.32045511C>A NCBI36
NG_032652.1:g.15952C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2829C>A ENSP00000419905.1:n.*2829C>A
ENST00000697831.1:c.*40C>A ENSP00000513453.1:n.*40C>A
ENST00000697835.1:c.*3299C>A ENSP00000513455.1:n.*3299C>A
ENST00000697838.1:c.*40C>A ENSP00000513457.1:n.*40C>A
ENST00000375394.6:c.*40C>A ENSP00000364543.2:n.*40C>A
NM_006929.4:c.*40C>A NP_008860.4:n.*40C>A
XR_926301.3:n.3797C>A