Canonical Allele Identifier: CA449814045
Gene: SKIC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.31937300C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969523C>A , CM000668.2:g.31969523C>A GRCh38
NC_000006.11:g.31937300C>A , CM000668.1:g.31937300C>A GRCh37
NC_000006.10:g.32045279C>A NCBI36
NG_032652.1:g.15720C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2597C>A ENSP00000419905.1:n.*2597C>A
ENST00000485349.6:n.4025C>A
ENST00000491994.2:c.*91C>A ENSP00000417586.2:n.*91C>A
ENST00000494058.6:n.3851C>A
ENST00000697831.1:c.3480C>A ENSP00000513453.1:p.Ser1160=
ENST00000697832.1:n.3702C>A
ENST00000697833.1:c.*497C>A ENSP00000513454.1:n.*497C>A
ENST00000697834.1:n.4267C>A
ENST00000697835.1:c.*3067C>A ENSP00000513455.1:n.*3067C>A
ENST00000697836.1:n.3903C>A
ENST00000697837.1:c.*665C>A ENSP00000513456.1:n.*665C>A
ENST00000697838.1:c.3414C>A ENSP00000513457.1:p.Ser1138=
ENST00000697839.1:n.4361C>A
ENST00000697840.1:c.3585C>A ENSP00000513458.1:p.Ser1195=
ENST00000697841.1:n.4460C>A
ENST00000697842.1:n.3804C>A
ENST00000375394.7:c.3549C>A MANE Select ENSP00000364543.2:p.Ser1183=
ENST00000375394.6:c.3549C>A ENSP00000364543.2:p.Ser1183=
ENST00000465703.5:n.4279C>A
ENST00000470453.1:n.391C>A
ENST00000471818.1:n.478C>A
ENST00000474839.5:c.*2921C>A ENSP00000420470.1:n.*2921C>A
ENST00000483553.5:c.1079C>A
ENST00000491994.1:c.638C>A
NM_006929.4:c.3549C>A NP_008860.4:p.Ser1183=
XR_926301.3:n.3565C>A
NM_006929.5:c.3549C>A MANE Select NP_008860.4:p.Ser1183=