Canonical Allele Identifier: CA449814127
Gene: SKIC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.31937357C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969580C>A , CM000668.2:g.31969580C>A GRCh38
NC_000006.11:g.31937357C>A , CM000668.1:g.31937357C>A GRCh37
NC_000006.10:g.32045336C>A NCBI36
NG_032652.1:g.15777C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2654C>A ENSP00000419905.1:n.*2654C>A
ENST00000485349.6:n.4082C>A
ENST00000491994.2:c.*148C>A ENSP00000417586.2:n.*148C>A
ENST00000494058.6:n.3908C>A
ENST00000697831.1:c.3537C>A ENSP00000513453.1:p.Arg1179=
ENST00000697832.1:n.3759C>A
ENST00000697833.1:c.*554C>A ENSP00000513454.1:n.*554C>A
ENST00000697834.1:n.4324C>A
ENST00000697835.1:c.*3124C>A ENSP00000513455.1:n.*3124C>A
ENST00000697836.1:n.3960C>A
ENST00000697837.1:c.*722C>A ENSP00000513456.1:n.*722C>A
ENST00000697838.1:c.3471C>A ENSP00000513457.1:p.Arg1157=
ENST00000697839.1:n.4418C>A
ENST00000697840.1:c.3642C>A ENSP00000513458.1:p.Arg1214=
ENST00000697841.1:n.4517C>A
ENST00000697842.1:n.3861C>A
ENST00000375394.7:c.3606C>A MANE Select ENSP00000364543.2:p.Arg1202=
ENST00000375394.6:c.3606C>A ENSP00000364543.2:p.Arg1202=
ENST00000465703.5:n.4336C>A
ENST00000470453.1:n.448C>A
ENST00000471818.1:n.535C>A
ENST00000474839.5:c.*2978C>A ENSP00000420470.1:n.*2978C>A
ENST00000483553.5:c.1136C>A
ENST00000491994.1:c.695C>A
NM_006929.4:c.3606C>A NP_008860.4:p.Arg1202=
XR_926301.3:n.3622C>A
NM_006929.5:c.3606C>A MANE Select NP_008860.4:p.Arg1202=