Canonical Allele Identifier: CA449813876

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937149G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969372G>A , CM000668.2:g.31969372G>A	GRCh38
NC_000006.11:g.31937149G>A , CM000668.1:g.31937149G>A	GRCh37
NC_000006.10:g.32045128G>A	NCBI36
NG_032652.1:g.15569G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2446G>A	ENSP00000419905.1:n.*2446G>A
ENST00000483553.6:c.*459G>A	ENSP00000420332.2:n.*459G>A
ENST00000485349.6:n.3968G>A
ENST00000491994.2:c.3492G>A	ENSP00000417586.2:p.Glu1164=
ENST00000494058.6:n.3794G>A
ENST00000697831.1:c.3423G>A	ENSP00000513453.1:p.Glu1141=
ENST00000697832.1:n.3645G>A
ENST00000697833.1:c.*440G>A	ENSP00000513454.1:n.*440G>A
ENST00000697834.1:n.4116G>A
ENST00000697835.1:c.*3010G>A	ENSP00000513455.1:n.*3010G>A
ENST00000697836.1:n.3823G>A
ENST00000697837.1:c.*608G>A	ENSP00000513456.1:n.*608G>A
ENST00000697838.1:c.3357G>A	ENSP00000513457.1:p.Glu1119=
ENST00000697839.1:n.4210G>A
ENST00000697840.1:c.3528G>A	ENSP00000513458.1:p.Glu1176=
ENST00000697841.1:n.4309G>A
ENST00000697842.1:n.3747G>A
ENST00000375394.7:c.3492G>A MANE Select	ENSP00000364543.2:p.Glu1164=
ENST00000375394.6:c.3492G>A	ENSP00000364543.2:p.Glu1164=
ENST00000465703.5:n.4128G>A
ENST00000470453.1:n.382+56G>A
ENST00000471818.1:n.421G>A
ENST00000474839.5:c.*2864G>A	ENSP00000420470.1:n.*2864G>A
ENST00000483553.5:c.928G>A
ENST00000485349.5:n.698G>A
ENST00000491994.1:c.487G>A
NM_006929.4:c.3492G>A	NP_008860.4:p.Glu1164=
XR_001743586.2:n.3591G>A
XR_926301.3:n.3508G>A
NM_006929.5:c.3492G>A MANE Select	NP_008860.4:p.Glu1164=