Canonical Allele Identifier: CA363490112

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937159G>A (hg19) ; chr6:g.31969382G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969382G>A , CM000668.2:g.31969382G>A	GRCh38
NC_000006.11:g.31937159G>A , CM000668.1:g.31937159G>A	GRCh37
NC_000006.10:g.32045138G>A	NCBI36
NG_032652.1:g.15579G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2456G>A	ENSP00000419905.1:n.*2456G>A
ENST00000483553.6:c.*469G>A	ENSP00000420332.2:n.*469G>A
ENST00000485349.6:n.3978G>A
ENST00000491994.2:c.3502G>A	ENSP00000417586.2:p.Gly1168Arg
ENST00000494058.6:n.3804G>A
ENST00000697831.1:c.3433G>A	ENSP00000513453.1:p.Gly1145Arg
ENST00000697832.1:n.3655G>A
ENST00000697833.1:c.*450G>A	ENSP00000513454.1:n.*450G>A
ENST00000697834.1:n.4126G>A
ENST00000697835.1:c.*3020G>A	ENSP00000513455.1:n.*3020G>A
ENST00000697836.1:n.3833G>A
ENST00000697837.1:c.*618G>A	ENSP00000513456.1:n.*618G>A
ENST00000697838.1:c.3367G>A	ENSP00000513457.1:p.Gly1123Arg
ENST00000697839.1:n.4220G>A
ENST00000697840.1:c.3538G>A	ENSP00000513458.1:p.Gly1180Arg
ENST00000697841.1:n.4319G>A
ENST00000697842.1:n.3757G>A
ENST00000375394.7:c.3502G>A MANE Select	ENSP00000364543.2:p.Gly1168Arg
ENST00000375394.6:c.3502G>A	ENSP00000364543.2:p.Gly1168Arg
ENST00000465703.5:n.4138G>A
ENST00000470453.1:n.382+66G>A
ENST00000471818.1:n.431G>A
ENST00000474839.5:c.*2874G>A	ENSP00000420470.1:n.*2874G>A
ENST00000483553.5:c.938G>A
ENST00000485349.5:n.708G>A
ENST00000491994.1:c.497G>A
NM_006929.4:c.3502G>A	NP_008860.4:p.Gly1168Arg
XR_001743586.2:n.3601G>A
XR_926301.3:n.3518G>A
NM_006929.5:c.3502G>A MANE Select	NP_008860.4:p.Gly1168Arg