Canonical Allele Identifier: CA449814307
Gene: SKIC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.31937489G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969712G>A , CM000668.2:g.31969712G>A GRCh38
NC_000006.11:g.31937489G>A , CM000668.1:g.31937489G>A GRCh37
NC_000006.10:g.32045468G>A NCBI36
NG_032652.1:g.15909G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2786G>A ENSP00000419905.1:n.*2786G>A
ENST00000485349.6:n.4214G>A
ENST00000491994.2:c.*280G>A ENSP00000417586.2:n.*280G>A
ENST00000494058.6:n.4040G>A
ENST00000697831.1:c.3669G>A ENSP00000513453.1:p.Gln1223=
ENST00000697832.1:n.3891G>A
ENST00000697834.1:n.4456G>A
ENST00000697835.1:c.*3256G>A ENSP00000513455.1:n.*3256G>A
ENST00000697837.1:c.*854G>A ENSP00000513456.1:n.*854G>A
ENST00000697838.1:c.3603G>A ENSP00000513457.1:p.Gln1201=
ENST00000697839.1:n.4550G>A
ENST00000697840.1:c.3774G>A ENSP00000513458.1:p.Gln1258=
ENST00000697841.1:n.4649G>A
ENST00000697842.1:n.3993G>A
ENST00000375394.7:c.3738G>A MANE Select ENSP00000364543.2:p.Gln1246=
ENST00000375394.6:c.3738G>A ENSP00000364543.2:p.Gln1246=
ENST00000465703.5:n.4468G>A
ENST00000471818.1:n.667G>A
ENST00000474839.5:c.*3110G>A ENSP00000420470.1:n.*3110G>A
ENST00000483553.5:c.1268G>A
ENST00000491994.1:c.827G>A
NM_006929.4:c.3738G>A NP_008860.4:p.Gln1246=
XR_926301.3:n.3754G>A
NM_006929.5:c.3738G>A MANE Select NP_008860.4:p.Gln1246=