Canonical Allele Identifier: CA363489850

Gene: SKIC2

Linked Data

• dbSNP Id: rs1245059852
• gnomAD v4: 6-31969346-C-A
• MyVariant Identifiers: chr6:g.31937123C>A (hg19) ; chr6:g.31969346C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969346C>A , CM000668.2:g.31969346C>A	GRCh38
NC_000006.11:g.31937123C>A , CM000668.1:g.31937123C>A	GRCh37
NC_000006.10:g.32045102C>A	NCBI36
NG_032652.1:g.15543C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2420C>A	ENSP00000419905.1:n.*2420C>A
ENST00000483553.6:c.*433C>A	ENSP00000420332.2:n.*433C>A
ENST00000485349.6:n.3942C>A
ENST00000491994.2:c.3466C>A	ENSP00000417586.2:p.Gln1156Lys
ENST00000494058.6:n.3768C>A
ENST00000697831.1:c.3397C>A	ENSP00000513453.1:p.Gln1133Lys
ENST00000697832.1:n.3619C>A
ENST00000697833.1:c.*414C>A	ENSP00000513454.1:n.*414C>A
ENST00000697834.1:n.4090C>A
ENST00000697835.1:c.*2984C>A	ENSP00000513455.1:n.*2984C>A
ENST00000697836.1:n.3797C>A
ENST00000697837.1:c.*582C>A	ENSP00000513456.1:n.*582C>A
ENST00000697838.1:c.3331C>A	ENSP00000513457.1:p.Gln1111Lys
ENST00000697839.1:n.4184C>A
ENST00000697840.1:c.3502C>A	ENSP00000513458.1:p.Gln1168Lys
ENST00000697841.1:n.4283C>A
ENST00000697842.1:n.3721C>A
ENST00000375394.7:c.3466C>A MANE Select	ENSP00000364543.2:p.Gln1156Lys
ENST00000375394.6:c.3466C>A	ENSP00000364543.2:p.Gln1156Lys
ENST00000465703.5:n.4102C>A
ENST00000470453.1:n.382+30C>A
ENST00000471818.1:n.395C>A
ENST00000474839.5:c.*2838C>A	ENSP00000420470.1:n.*2838C>A
ENST00000483553.5:c.902C>A
ENST00000485349.5:n.672C>A
ENST00000491994.1:c.461C>A
NM_006929.4:c.3466C>A	NP_008860.4:p.Gln1156Lys
XR_001743586.2:n.3565C>A
XR_926301.3:n.3482C>A
NM_006929.5:c.3466C>A MANE Select	NP_008860.4:p.Gln1156Lys