Canonical Allele Identifier: CA1619384435
Gene: SKIC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969646C= , CM000668.2:g.31969646C= GRCh38
NC_000006.11:g.31937423C= , CM000668.1:g.31937423C= GRCh37
NC_000006.10:g.32045402C= NCBI36
NG_032652.1:g.15843C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2720C= ENSP00000419905.1:n.*2720C=
ENST00000485349.6:n.4148C=
ENST00000491994.2:c.*214C= ENSP00000417586.2:n.*214C=
ENST00000494058.6:n.3974C=
ENST00000697831.1:c.3603C= ENSP00000513453.1:p.Ala1201=
ENST00000697832.1:n.3825C=
ENST00000697834.1:n.4390C=
ENST00000697835.1:c.*3190C= ENSP00000513455.1:n.*3190C=
ENST00000697836.1:n.4026C=
ENST00000697837.1:c.*788C= ENSP00000513456.1:n.*788C=
ENST00000697838.1:c.3537C= ENSP00000513457.1:p.Ala1179=
ENST00000697839.1:n.4484C=
ENST00000697840.1:c.3708C= ENSP00000513458.1:p.Ala1236=
ENST00000697841.1:n.4583C=
ENST00000697842.1:n.3927C=
ENST00000375394.7:c.3672C= MANE Select ENSP00000364543.2:p.Ala1224=
ENST00000375394.6:c.3672C= ENSP00000364543.2:p.Ala1224=
ENST00000465703.5:n.4402C=
ENST00000471818.1:n.601C=
ENST00000474839.5:c.*3044C= ENSP00000420470.1:n.*3044C=
ENST00000483553.5:c.1202C=
ENST00000491994.1:c.761C=
NM_006929.4:c.3672C= NP_008860.4:p.Ala1224=
XR_926301.3:n.3688C=
NM_006929.5:c.3672C= MANE Select NP_008860.4:p.Ala1224=