Canonical Allele Identifier: CA363490033

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937149G>T (hg19) ; chr6:g.31969372G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2446G>T	ENSP00000419905.1:n.*2446G>T
ENST00000483553.6:c.*459G>T	ENSP00000420332.2:n.*459G>T
ENST00000485349.6:n.3968G>T
ENST00000491994.2:c.3492G>T	ENSP00000417586.2:p.Glu1164Asp
ENST00000494058.6:n.3794G>T
ENST00000697831.1:c.3423G>T	ENSP00000513453.1:p.Glu1141Asp
ENST00000697832.1:n.3645G>T
ENST00000697833.1:c.*440G>T	ENSP00000513454.1:n.*440G>T
ENST00000697834.1:n.4116G>T
ENST00000697835.1:c.*3010G>T	ENSP00000513455.1:n.*3010G>T
ENST00000697836.1:n.3823G>T
ENST00000697837.1:c.*608G>T	ENSP00000513456.1:n.*608G>T
ENST00000697838.1:c.3357G>T	ENSP00000513457.1:p.Glu1119Asp
ENST00000697839.1:n.4210G>T
ENST00000697840.1:c.3528G>T	ENSP00000513458.1:p.Glu1176Asp
ENST00000697841.1:n.4309G>T
ENST00000697842.1:n.3747G>T
ENST00000375394.7:c.3492G>T MANE Select	ENSP00000364543.2:p.Glu1164Asp
ENST00000375394.6:c.3492G>T	ENSP00000364543.2:p.Glu1164Asp
ENST00000465703.5:n.4128G>T
ENST00000470453.1:n.382+56G>T
ENST00000471818.1:n.421G>T
ENST00000474839.5:c.*2864G>T	ENSP00000420470.1:n.*2864G>T
ENST00000483553.5:c.928G>T
ENST00000485349.5:n.698G>T
ENST00000491994.1:c.487G>T
NM_006929.4:c.3492G>T	NP_008860.4:p.Glu1164Asp
XR_001743586.2:n.3591G>T
XR_926301.3:n.3508G>T
NM_006929.5:c.3492G>T MANE Select	NP_008860.4:p.Glu1164Asp