Canonical Allele Identifier: CA449814055
Gene: SKIC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.31937306G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969529G>A , CM000668.2:g.31969529G>A GRCh38
NC_000006.11:g.31937306G>A , CM000668.1:g.31937306G>A GRCh37
NC_000006.10:g.32045285G>A NCBI36
NG_032652.1:g.15726G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2603G>A ENSP00000419905.1:n.*2603G>A
ENST00000485349.6:n.4031G>A
ENST00000491994.2:c.*97G>A ENSP00000417586.2:n.*97G>A
ENST00000494058.6:n.3857G>A
ENST00000697831.1:c.3486G>A ENSP00000513453.1:p.Leu1162=
ENST00000697832.1:n.3708G>A
ENST00000697833.1:c.*503G>A ENSP00000513454.1:n.*503G>A
ENST00000697834.1:n.4273G>A
ENST00000697835.1:c.*3073G>A ENSP00000513455.1:n.*3073G>A
ENST00000697836.1:n.3909G>A
ENST00000697837.1:c.*671G>A ENSP00000513456.1:n.*671G>A
ENST00000697838.1:c.3420G>A ENSP00000513457.1:p.Leu1140=
ENST00000697839.1:n.4367G>A
ENST00000697840.1:c.3591G>A ENSP00000513458.1:p.Leu1197=
ENST00000697841.1:n.4466G>A
ENST00000697842.1:n.3810G>A
ENST00000375394.7:c.3555G>A MANE Select ENSP00000364543.2:p.Leu1185=
ENST00000375394.6:c.3555G>A ENSP00000364543.2:p.Leu1185=
ENST00000465703.5:n.4285G>A
ENST00000470453.1:n.397G>A
ENST00000471818.1:n.484G>A
ENST00000474839.5:c.*2927G>A ENSP00000420470.1:n.*2927G>A
ENST00000483553.5:c.1085G>A
ENST00000491994.1:c.644G>A
NM_006929.4:c.3555G>A NP_008860.4:p.Leu1185=
XR_926301.3:n.3571G>A
NM_006929.5:c.3555G>A MANE Select NP_008860.4:p.Leu1185=