Canonical Allele Identifier: CA2678079062
Gene: SKIC2 HGNC NCBI

Linked Data

gnomAD v4: 6-31969778-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969778A>T , CM000668.2:g.31969778A>T GRCh38
NC_000006.11:g.31937555A>T , CM000668.1:g.31937555A>T GRCh37
NC_000006.10:g.32045534A>T NCBI36
NG_032652.1:g.15975A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2852A>T ENSP00000419905.1:n.*2852A>T
ENST00000697831.1:c.*63A>T ENSP00000513453.1:n.*63A>T
ENST00000697835.1:c.*3322A>T ENSP00000513455.1:n.*3322A>T
ENST00000697838.1:c.*63A>T ENSP00000513457.1:n.*63A>T
XR_926301.3:n.3820A>T