Canonical Allele Identifier: CA449814067
Gene: SKIC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.31937315C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969538C>G , CM000668.2:g.31969538C>G GRCh38
NC_000006.11:g.31937315C>G , CM000668.1:g.31937315C>G GRCh37
NC_000006.10:g.32045294C>G NCBI36
NG_032652.1:g.15735C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2612C>G ENSP00000419905.1:n.*2612C>G
ENST00000485349.6:n.4040C>G
ENST00000491994.2:c.*106C>G ENSP00000417586.2:n.*106C>G
ENST00000494058.6:n.3866C>G
ENST00000697831.1:c.3495C>G ENSP00000513453.1:p.Leu1165=
ENST00000697832.1:n.3717C>G
ENST00000697833.1:c.*512C>G ENSP00000513454.1:n.*512C>G
ENST00000697834.1:n.4282C>G
ENST00000697835.1:c.*3082C>G ENSP00000513455.1:n.*3082C>G
ENST00000697836.1:n.3918C>G
ENST00000697837.1:c.*680C>G ENSP00000513456.1:n.*680C>G
ENST00000697838.1:c.3429C>G ENSP00000513457.1:p.Leu1143=
ENST00000697839.1:n.4376C>G
ENST00000697840.1:c.3600C>G ENSP00000513458.1:p.Leu1200=
ENST00000697841.1:n.4475C>G
ENST00000697842.1:n.3819C>G
ENST00000375394.7:c.3564C>G MANE Select ENSP00000364543.2:p.Leu1188=
ENST00000375394.6:c.3564C>G ENSP00000364543.2:p.Leu1188=
ENST00000465703.5:n.4294C>G
ENST00000470453.1:n.406C>G
ENST00000471818.1:n.493C>G
ENST00000474839.5:c.*2936C>G ENSP00000420470.1:n.*2936C>G
ENST00000483553.5:c.1094C>G
ENST00000491994.1:c.653C>G
NM_006929.4:c.3564C>G NP_008860.4:p.Leu1188=
XR_926301.3:n.3580C>G
NM_006929.5:c.3564C>G MANE Select NP_008860.4:p.Leu1188=