Canonical Allele Identifier: CA2678079051
Gene: SKIC2 HGNC NCBI

Linked Data

gnomAD v4: 6-31969761-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969761T>G , CM000668.2:g.31969761T>G GRCh38
NC_000006.11:g.31937538T>G , CM000668.1:g.31937538T>G GRCh37
NC_000006.10:g.32045517T>G NCBI36
NG_032652.1:g.15958T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2835T>G ENSP00000419905.1:n.*2835T>G
ENST00000697831.1:c.*46T>G ENSP00000513453.1:n.*46T>G
ENST00000697835.1:c.*3305T>G ENSP00000513455.1:n.*3305T>G
ENST00000697838.1:c.*46T>G ENSP00000513457.1:n.*46T>G
XR_926301.3:n.3803T>G
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