Canonical Allele Identifier: CA2678079045
Gene: SKIC2 HGNC NCBI

Linked Data

gnomAD v4: 6-31969752-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969752G>A , CM000668.2:g.31969752G>A GRCh38
NC_000006.11:g.31937529G>A , CM000668.1:g.31937529G>A GRCh37
NC_000006.10:g.32045508G>A NCBI36
NG_032652.1:g.15949G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2826G>A ENSP00000419905.1:n.*2826G>A
ENST00000697831.1:c.*37G>A ENSP00000513453.1:n.*37G>A
ENST00000697835.1:c.*3296G>A ENSP00000513455.1:n.*3296G>A
ENST00000697838.1:c.*37G>A ENSP00000513457.1:n.*37G>A
ENST00000375394.6:c.*37G>A ENSP00000364543.2:n.*37G>A
NM_006929.4:c.*37G>A NP_008860.4:n.*37G>A
XR_926301.3:n.3794G>A