Canonical Allele Identifier: CA363490016

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937147G>A (hg19) ; chr6:g.31969370G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969370G>A , CM000668.2:g.31969370G>A	GRCh38
NC_000006.11:g.31937147G>A , CM000668.1:g.31937147G>A	GRCh37
NC_000006.10:g.32045126G>A	NCBI36
NG_032652.1:g.15567G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2444G>A	ENSP00000419905.1:n.*2444G>A
ENST00000483553.6:c.*457G>A	ENSP00000420332.2:n.*457G>A
ENST00000485349.6:n.3966G>A
ENST00000491994.2:c.3490G>A	ENSP00000417586.2:p.Glu1164Lys
ENST00000494058.6:n.3792G>A
ENST00000697831.1:c.3421G>A	ENSP00000513453.1:p.Glu1141Lys
ENST00000697832.1:n.3643G>A
ENST00000697833.1:c.*438G>A	ENSP00000513454.1:n.*438G>A
ENST00000697834.1:n.4114G>A
ENST00000697835.1:c.*3008G>A	ENSP00000513455.1:n.*3008G>A
ENST00000697836.1:n.3821G>A
ENST00000697837.1:c.*606G>A	ENSP00000513456.1:n.*606G>A
ENST00000697838.1:c.3355G>A	ENSP00000513457.1:p.Glu1119Lys
ENST00000697839.1:n.4208G>A
ENST00000697840.1:c.3526G>A	ENSP00000513458.1:p.Glu1176Lys
ENST00000697841.1:n.4307G>A
ENST00000697842.1:n.3745G>A
ENST00000375394.7:c.3490G>A MANE Select	ENSP00000364543.2:p.Glu1164Lys
ENST00000375394.6:c.3490G>A	ENSP00000364543.2:p.Glu1164Lys
ENST00000465703.5:n.4126G>A
ENST00000470453.1:n.382+54G>A
ENST00000471818.1:n.419G>A
ENST00000474839.5:c.*2862G>A	ENSP00000420470.1:n.*2862G>A
ENST00000483553.5:c.926G>A
ENST00000485349.5:n.696G>A
ENST00000491994.1:c.485G>A
NM_006929.4:c.3490G>A	NP_008860.4:p.Glu1164Lys
XR_001743586.2:n.3589G>A
XR_926301.3:n.3506G>A
NM_006929.5:c.3490G>A MANE Select	NP_008860.4:p.Glu1164Lys