Canonical Allele Identifier: CA449813836
Gene: SKIC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.31937125G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969348G>A , CM000668.2:g.31969348G>A GRCh38
NC_000006.11:g.31937125G>A , CM000668.1:g.31937125G>A GRCh37
NC_000006.10:g.32045104G>A NCBI36
NG_032652.1:g.15545G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2422G>A ENSP00000419905.1:n.*2422G>A
ENST00000483553.6:c.*435G>A ENSP00000420332.2:n.*435G>A
ENST00000485349.6:n.3944G>A
ENST00000491994.2:c.3468G>A ENSP00000417586.2:p.Gln1156=
ENST00000494058.6:n.3770G>A
ENST00000697831.1:c.3399G>A ENSP00000513453.1:p.Gln1133=
ENST00000697832.1:n.3621G>A
ENST00000697833.1:c.*416G>A ENSP00000513454.1:n.*416G>A
ENST00000697834.1:n.4092G>A
ENST00000697835.1:c.*2986G>A ENSP00000513455.1:n.*2986G>A
ENST00000697836.1:n.3799G>A
ENST00000697837.1:c.*584G>A ENSP00000513456.1:n.*584G>A
ENST00000697838.1:c.3333G>A ENSP00000513457.1:p.Gln1111=
ENST00000697839.1:n.4186G>A
ENST00000697840.1:c.3504G>A ENSP00000513458.1:p.Gln1168=
ENST00000697841.1:n.4285G>A
ENST00000697842.1:n.3723G>A
ENST00000375394.7:c.3468G>A MANE Select ENSP00000364543.2:p.Gln1156=
ENST00000375394.6:c.3468G>A ENSP00000364543.2:p.Gln1156=
ENST00000465703.5:n.4104G>A
ENST00000470453.1:n.382+32G>A
ENST00000471818.1:n.397G>A
ENST00000474839.5:c.*2840G>A ENSP00000420470.1:n.*2840G>A
ENST00000483553.5:c.904G>A
ENST00000485349.5:n.674G>A
ENST00000491994.1:c.463G>A
NM_006929.4:c.3468G>A NP_008860.4:p.Gln1156=
XR_001743586.2:n.3567G>A
XR_926301.3:n.3484G>A
NM_006929.5:c.3468G>A MANE Select NP_008860.4:p.Gln1156=