Canonical Allele Identifier: CA136914515

Gene: SKIC2

Linked Data

• dbSNP Id: rs769347689
• MyVariant Identifiers: chr6:g.31937161G>A (hg19) ; chr6:g.31969384G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969384G>A , CM000668.2:g.31969384G>A	GRCh38
NC_000006.11:g.31937161G>A , CM000668.1:g.31937161G>A	GRCh37
NC_000006.10:g.32045140G>A	NCBI36
NG_032652.1:g.15581G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2458G>A	ENSP00000419905.1:n.*2458G>A
ENST00000483553.6:c.*471G>A	ENSP00000420332.2:n.*471G>A
ENST00000485349.6:n.3980G>A
ENST00000491994.2:c.3504G>A	ENSP00000417586.2:p.Gly1168=
ENST00000494058.6:n.3806G>A
ENST00000697831.1:c.3435G>A	ENSP00000513453.1:p.Gly1145=
ENST00000697832.1:n.3657G>A
ENST00000697833.1:c.*452G>A	ENSP00000513454.1:n.*452G>A
ENST00000697834.1:n.4128G>A
ENST00000697835.1:c.*3022G>A	ENSP00000513455.1:n.*3022G>A
ENST00000697836.1:n.3835G>A
ENST00000697837.1:c.*620G>A	ENSP00000513456.1:n.*620G>A
ENST00000697838.1:c.3369G>A	ENSP00000513457.1:p.Gly1123=
ENST00000697839.1:n.4222G>A
ENST00000697840.1:c.3540G>A	ENSP00000513458.1:p.Gly1180=
ENST00000697841.1:n.4321G>A
ENST00000697842.1:n.3759G>A
ENST00000375394.7:c.3504G>A MANE Select	ENSP00000364543.2:p.Gly1168=
ENST00000375394.6:c.3504G>A	ENSP00000364543.2:p.Gly1168=
ENST00000465703.5:n.4140G>A
ENST00000470453.1:n.382+68G>A
ENST00000471818.1:n.433G>A
ENST00000474839.5:c.*2876G>A	ENSP00000420470.1:n.*2876G>A
ENST00000483553.5:c.940G>A
ENST00000485349.5:n.710G>A
ENST00000491994.1:c.499G>A
NM_006929.4:c.3504G>A	NP_008860.4:p.Gly1168=
XR_001743586.2:n.3603G>A
XR_926301.3:n.3520G>A
NM_006929.5:c.3504G>A MANE Select	NP_008860.4:p.Gly1168=