Canonical Allele Identifier: CA449814268
Gene: SKIC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.31937474C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969697C>T , CM000668.2:g.31969697C>T GRCh38
NC_000006.11:g.31937474C>T , CM000668.1:g.31937474C>T GRCh37
NC_000006.10:g.32045453C>T NCBI36
NG_032652.1:g.15894C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2771C>T ENSP00000419905.1:n.*2771C>T
ENST00000485349.6:n.4199C>T
ENST00000491994.2:c.*265C>T ENSP00000417586.2:n.*265C>T
ENST00000494058.6:n.4025C>T
ENST00000697831.1:c.3654C>T ENSP00000513453.1:p.Ala1218=
ENST00000697832.1:n.3876C>T
ENST00000697834.1:n.4441C>T
ENST00000697835.1:c.*3241C>T ENSP00000513455.1:n.*3241C>T
ENST00000697836.1:n.4077C>T
ENST00000697837.1:c.*839C>T ENSP00000513456.1:n.*839C>T
ENST00000697838.1:c.3588C>T ENSP00000513457.1:p.Ala1196=
ENST00000697839.1:n.4535C>T
ENST00000697840.1:c.3759C>T ENSP00000513458.1:p.Ala1253=
ENST00000697841.1:n.4634C>T
ENST00000697842.1:n.3978C>T
ENST00000375394.7:c.3723C>T MANE Select ENSP00000364543.2:p.Ala1241=
ENST00000375394.6:c.3723C>T ENSP00000364543.2:p.Ala1241=
ENST00000465703.5:n.4453C>T
ENST00000471818.1:n.652C>T
ENST00000474839.5:c.*3095C>T ENSP00000420470.1:n.*3095C>T
ENST00000483553.5:c.1253C>T
ENST00000491994.1:c.812C>T
NM_006929.4:c.3723C>T NP_008860.4:p.Ala1241=
XR_926301.3:n.3739C>T
NM_006929.5:c.3723C>T MANE Select NP_008860.4:p.Ala1241=