Canonical Allele Identifier: CA449813898

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937167T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969390T>A , CM000668.2:g.31969390T>A	GRCh38
NC_000006.11:g.31937167T>A , CM000668.1:g.31937167T>A	GRCh37
NC_000006.10:g.32045146T>A	NCBI36
NG_032652.1:g.15587T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2464T>A	ENSP00000419905.1:n.*2464T>A
ENST00000483553.6:c.*477T>A	ENSP00000420332.2:n.*477T>A
ENST00000485349.6:n.3986T>A
ENST00000491994.2:c.3510T>A	ENSP00000417586.2:p.Val1170=
ENST00000494058.6:n.3812T>A
ENST00000697831.1:c.3441T>A	ENSP00000513453.1:p.Val1147=
ENST00000697832.1:n.3663T>A
ENST00000697833.1:c.*458T>A	ENSP00000513454.1:n.*458T>A
ENST00000697834.1:n.4134T>A
ENST00000697835.1:c.*3028T>A	ENSP00000513455.1:n.*3028T>A
ENST00000697836.1:n.3841T>A
ENST00000697837.1:c.*626T>A	ENSP00000513456.1:n.*626T>A
ENST00000697838.1:c.3375T>A	ENSP00000513457.1:p.Val1125=
ENST00000697839.1:n.4228T>A
ENST00000697840.1:c.3546T>A	ENSP00000513458.1:p.Val1182=
ENST00000697841.1:n.4327T>A
ENST00000697842.1:n.3765T>A
ENST00000375394.7:c.3510T>A MANE Select	ENSP00000364543.2:p.Val1170=
ENST00000375394.6:c.3510T>A	ENSP00000364543.2:p.Val1170=
ENST00000465703.5:n.4146T>A
ENST00000470453.1:n.382+74T>A
ENST00000471818.1:n.439T>A
ENST00000474839.5:c.*2882T>A	ENSP00000420470.1:n.*2882T>A
ENST00000483553.5:c.946T>A
ENST00000485349.5:n.716T>A
ENST00000491994.1:c.505T>A
NM_006929.4:c.3510T>A	NP_008860.4:p.Val1170=
XR_001743586.2:n.3609T>A
XR_926301.3:n.3526T>A
NM_006929.5:c.3510T>A MANE Select	NP_008860.4:p.Val1170=