Canonical Allele Identifier: CA449814153
Gene: SKIC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.31937384G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969607G>C , CM000668.2:g.31969607G>C GRCh38
NC_000006.11:g.31937384G>C , CM000668.1:g.31937384G>C GRCh37
NC_000006.10:g.32045363G>C NCBI36
NG_032652.1:g.15804G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2681G>C ENSP00000419905.1:n.*2681G>C
ENST00000485349.6:n.4109G>C
ENST00000491994.2:c.*175G>C ENSP00000417586.2:n.*175G>C
ENST00000494058.6:n.3935G>C
ENST00000697831.1:c.3564G>C ENSP00000513453.1:p.Arg1188=
ENST00000697832.1:n.3786G>C
ENST00000697834.1:n.4351G>C
ENST00000697835.1:c.*3151G>C ENSP00000513455.1:n.*3151G>C
ENST00000697836.1:n.3987G>C
ENST00000697837.1:c.*749G>C ENSP00000513456.1:n.*749G>C
ENST00000697838.1:c.3498G>C ENSP00000513457.1:p.Arg1166=
ENST00000697839.1:n.4445G>C
ENST00000697840.1:c.3669G>C ENSP00000513458.1:p.Arg1223=
ENST00000697841.1:n.4544G>C
ENST00000697842.1:n.3888G>C
ENST00000375394.7:c.3633G>C MANE Select ENSP00000364543.2:p.Arg1211=
ENST00000375394.6:c.3633G>C ENSP00000364543.2:p.Arg1211=
ENST00000465703.5:n.4363G>C
ENST00000471818.1:n.562G>C
ENST00000474839.5:c.*3005G>C ENSP00000420470.1:n.*3005G>C
ENST00000483553.5:c.1163G>C
ENST00000491994.1:c.722G>C
NM_006929.4:c.3633G>C NP_008860.4:p.Arg1211=
XR_926301.3:n.3649G>C
NM_006929.5:c.3633G>C MANE Select NP_008860.4:p.Arg1211=