Canonical Allele Identifier: CA449814037
Gene: SKIC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.31937294C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969517C>A , CM000668.2:g.31969517C>A GRCh38
NC_000006.11:g.31937294C>A , CM000668.1:g.31937294C>A GRCh37
NC_000006.10:g.32045273C>A NCBI36
NG_032652.1:g.15714C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000461073.6:c.*2591C>A ENSP00000419905.1:n.*2591C>A
ENST00000485349.6:n.4019C>A
ENST00000491994.2:c.*85C>A ENSP00000417586.2:n.*85C>A
ENST00000494058.6:n.3845C>A
ENST00000697831.1:c.3474C>A ENSP00000513453.1:p.Pro1158=
ENST00000697832.1:n.3696C>A
ENST00000697833.1:c.*491C>A ENSP00000513454.1:n.*491C>A
ENST00000697834.1:n.4261C>A
ENST00000697835.1:c.*3061C>A ENSP00000513455.1:n.*3061C>A
ENST00000697836.1:n.3897C>A
ENST00000697837.1:c.*659C>A ENSP00000513456.1:n.*659C>A
ENST00000697838.1:c.3408C>A ENSP00000513457.1:p.Pro1136=
ENST00000697839.1:n.4355C>A
ENST00000697840.1:c.3579C>A ENSP00000513458.1:p.Pro1193=
ENST00000697841.1:n.4454C>A
ENST00000697842.1:n.3798C>A
ENST00000375394.7:c.3543C>A MANE Select ENSP00000364543.2:p.Pro1181=
ENST00000375394.6:c.3543C>A ENSP00000364543.2:p.Pro1181=
ENST00000465703.5:n.4273C>A
ENST00000470453.1:n.385C>A
ENST00000471818.1:n.472C>A
ENST00000474839.5:c.*2915C>A ENSP00000420470.1:n.*2915C>A
ENST00000483553.5:c.1073C>A
ENST00000491994.1:c.632C>A
NM_006929.4:c.3543C>A NP_008860.4:p.Pro1181=
XR_926301.3:n.3559C>A
NM_006929.5:c.3543C>A MANE Select NP_008860.4:p.Pro1181=