Canonical Allele Identifier: CA363489854

Gene: SKIC2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2420C>T	ENSP00000419905.1:n.*2420C>T
ENST00000483553.6:c.*433C>T	ENSP00000420332.2:n.*433C>T
ENST00000485349.6:n.3942C>T
ENST00000491994.2:c.3466C>T	ENSP00000417586.2:p.Gln1156Ter
ENST00000494058.6:n.3768C>T
ENST00000697831.1:c.3397C>T	ENSP00000513453.1:p.Gln1133Ter
ENST00000697832.1:n.3619C>T
ENST00000697833.1:c.*414C>T	ENSP00000513454.1:n.*414C>T
ENST00000697834.1:n.4090C>T
ENST00000697835.1:c.*2984C>T	ENSP00000513455.1:n.*2984C>T
ENST00000697836.1:n.3797C>T
ENST00000697837.1:c.*582C>T	ENSP00000513456.1:n.*582C>T
ENST00000697838.1:c.3331C>T	ENSP00000513457.1:p.Gln1111Ter
ENST00000697839.1:n.4184C>T
ENST00000697840.1:c.3502C>T	ENSP00000513458.1:p.Gln1168Ter
ENST00000697841.1:n.4283C>T
ENST00000697842.1:n.3721C>T
ENST00000375394.7:c.3466C>T MANE Select	ENSP00000364543.2:p.Gln1156Ter
ENST00000375394.6:c.3466C>T	ENSP00000364543.2:p.Gln1156Ter
ENST00000465703.5:n.4102C>T
ENST00000470453.1:n.382+30C>T
ENST00000471818.1:n.395C>T
ENST00000474839.5:c.*2838C>T	ENSP00000420470.1:n.*2838C>T
ENST00000483553.5:c.902C>T
ENST00000485349.5:n.672C>T
ENST00000491994.1:c.461C>T
NM_006929.4:c.3466C>T	NP_008860.4:p.Gln1156Ter
XR_001743586.2:n.3565C>T
XR_926301.3:n.3482C>T
NM_006929.5:c.3466C>T MANE Select	NP_008860.4:p.Gln1156Ter