Canonical Allele Identifier: CA449814142
Gene: SKIC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.31937375C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969598C>G , CM000668.2:g.31969598C>G GRCh38
NC_000006.11:g.31937375C>G , CM000668.1:g.31937375C>G GRCh37
NC_000006.10:g.32045354C>G NCBI36
NG_032652.1:g.15795C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2672C>G ENSP00000419905.1:n.*2672C>G
ENST00000485349.6:n.4100C>G
ENST00000491994.2:c.*166C>G ENSP00000417586.2:n.*166C>G
ENST00000494058.6:n.3926C>G
ENST00000697831.1:c.3555C>G ENSP00000513453.1:p.Arg1185=
ENST00000697832.1:n.3777C>G
ENST00000697834.1:n.4342C>G
ENST00000697835.1:c.*3142C>G ENSP00000513455.1:n.*3142C>G
ENST00000697836.1:n.3978C>G
ENST00000697837.1:c.*740C>G ENSP00000513456.1:n.*740C>G
ENST00000697838.1:c.3489C>G ENSP00000513457.1:p.Arg1163=
ENST00000697839.1:n.4436C>G
ENST00000697840.1:c.3660C>G ENSP00000513458.1:p.Arg1220=
ENST00000697841.1:n.4535C>G
ENST00000697842.1:n.3879C>G
ENST00000375394.7:c.3624C>G MANE Select ENSP00000364543.2:p.Arg1208=
ENST00000375394.6:c.3624C>G ENSP00000364543.2:p.Arg1208=
ENST00000465703.5:n.4354C>G
ENST00000471818.1:n.553C>G
ENST00000474839.5:c.*2996C>G ENSP00000420470.1:n.*2996C>G
ENST00000483553.5:c.1154C>G
ENST00000491994.1:c.713C>G
NM_006929.4:c.3624C>G NP_008860.4:p.Arg1208=
XR_926301.3:n.3640C>G
NM_006929.5:c.3624C>G MANE Select NP_008860.4:p.Arg1208=