Canonical Allele Identifier: CA823919197

Gene: SKIC2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31961022T>A , CM000668.2:g.31961022T>A	GRCh38
NC_000006.11:g.31928799T>A , CM000668.1:g.31928799T>A	GRCh37
NC_000006.10:g.32036778T>A	NCBI36
NG_032652.1:g.7219T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.545-19T>A	ENSP00000419905.1:n.545-19T>A
ENST00000483553.6:c.545-19T>A	ENSP00000420332.2:n.545-19T>A
ENST00000485349.6:n.586-19T>A
ENST00000491994.2:c.545-19T>A	ENSP00000417586.2:n.545-19T>A
ENST00000494058.6:n.602-19T>A
ENST00000697831.1:c.545-19T>A	ENSP00000513453.1:n.545-19T>A
ENST00000697832.1:n.621-19T>A
ENST00000697833.1:c.545-19T>A	ENSP00000513454.1:n.545-19T>A
ENST00000697834.1:n.597-19T>A
ENST00000697835.1:c.*63-19T>A	ENSP00000513455.1:n.*63-19T>A
ENST00000697836.1:n.581-19T>A
ENST00000697837.1:c.545-19T>A	ENSP00000513456.1:n.545-19T>A
ENST00000697838.1:c.410-19T>A	ENSP00000513457.1:n.410-19T>A
ENST00000697839.1:n.567-19T>A
ENST00000697840.1:c.562T>A	ENSP00000513458.1:p.Ser188Thr
ENST00000697841.1:n.837T>A
ENST00000697842.1:n.545-19T>A
ENST00000375394.7:c.545-19T>A MANE Select	ENSP00000364543.2:n.545-19T>A
ENST00000375394.6:c.545-19T>A	ENSP00000364543.2:n.545-19T>A
ENST00000461073.5:c.545-19T>A	ENSP00000419905.1:n.545-19T>A
ENST00000465703.5:n.597-19T>A
ENST00000474839.5:c.127-19T>A	ENSP00000420470.1:n.127-19T>A
ENST00000488648.5:n.621-19T>A
ENST00000628157.1:c.127-19T>A	ENSP00000485707.1:n.127-19T>A
NM_006929.4:c.545-19T>A	NP_008860.4:n.545-19T>A
XM_006715168.2:c.545-19T>A	XP_006715231.1:n.545-19T>A
XM_011514815.1:c.545-19T>A	XP_011513117.1:n.545-19T>A
XR_926301.1:n.633-19T>A
XM_011514815.3:c.545-19T>A	XP_011513117.1:n.545-19T>A
XR_001743586.2:n.581-19T>A
XR_926301.3:n.581-19T>A
NM_006929.5:c.545-19T>A MANE Select	NP_008860.4:n.545-19T>A