Canonical Allele Identifier: CA449814313
Gene: SKIC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.31937491G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969714G>A , CM000668.2:g.31969714G>A GRCh38
NC_000006.11:g.31937491G>A , CM000668.1:g.31937491G>A GRCh37
NC_000006.10:g.32045470G>A NCBI36
NG_032652.1:g.15911G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2788G>A ENSP00000419905.1:n.*2788G>A
ENST00000485349.6:n.4216G>A
ENST00000491994.2:c.*282G>A ENSP00000417586.2:n.*282G>A
ENST00000494058.6:n.4042G>A
ENST00000697831.1:c.3671G>A ENSP00000513453.1:p.Ter1224=
ENST00000697832.1:n.3893G>A
ENST00000697834.1:n.4458G>A
ENST00000697835.1:c.*3258G>A ENSP00000513455.1:n.*3258G>A
ENST00000697837.1:c.*856G>A ENSP00000513456.1:n.*856G>A
ENST00000697838.1:c.3605G>A ENSP00000513457.1:p.Ter1202=
ENST00000697839.1:n.4552G>A
ENST00000697840.1:c.3776G>A ENSP00000513458.1:p.Ter1259=
ENST00000697841.1:n.4651G>A
ENST00000697842.1:n.3995G>A
ENST00000375394.7:c.3740G>A MANE Select ENSP00000364543.2:p.Ter1247=
ENST00000375394.6:c.3740G>A ENSP00000364543.2:p.Ter1247=
ENST00000465703.5:n.4470G>A
ENST00000471818.1:n.669G>A
ENST00000474839.5:c.*3112G>A ENSP00000420470.1:n.*3112G>A
ENST00000483553.5:c.1270G>A
ENST00000491994.1:c.829G>A
NM_006929.4:c.3740G>A NP_008860.4:p.Ter1247=
XR_926301.3:n.3756G>A
NM_006929.5:c.3740G>A MANE Select NP_008860.4:p.Ter1247=