Canonical Allele Identifier: CA363489892

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937132G>C (hg19) ; chr6:g.31969355G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969355G>C , CM000668.2:g.31969355G>C	GRCh38
NC_000006.11:g.31937132G>C , CM000668.1:g.31937132G>C	GRCh37
NC_000006.10:g.32045111G>C	NCBI36
NG_032652.1:g.15552G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2429G>C	ENSP00000419905.1:n.*2429G>C
ENST00000483553.6:c.*442G>C	ENSP00000420332.2:n.*442G>C
ENST00000485349.6:n.3951G>C
ENST00000491994.2:c.3475G>C	ENSP00000417586.2:p.Glu1159Gln
ENST00000494058.6:n.3777G>C
ENST00000697831.1:c.3406G>C	ENSP00000513453.1:p.Glu1136Gln
ENST00000697832.1:n.3628G>C
ENST00000697833.1:c.*423G>C	ENSP00000513454.1:n.*423G>C
ENST00000697834.1:n.4099G>C
ENST00000697835.1:c.*2993G>C	ENSP00000513455.1:n.*2993G>C
ENST00000697836.1:n.3806G>C
ENST00000697837.1:c.*591G>C	ENSP00000513456.1:n.*591G>C
ENST00000697838.1:c.3340G>C	ENSP00000513457.1:p.Glu1114Gln
ENST00000697839.1:n.4193G>C
ENST00000697840.1:c.3511G>C	ENSP00000513458.1:p.Glu1171Gln
ENST00000697841.1:n.4292G>C
ENST00000697842.1:n.3730G>C
ENST00000375394.7:c.3475G>C MANE Select	ENSP00000364543.2:p.Glu1159Gln
ENST00000375394.6:c.3475G>C	ENSP00000364543.2:p.Glu1159Gln
ENST00000465703.5:n.4111G>C
ENST00000470453.1:n.382+39G>C
ENST00000471818.1:n.404G>C
ENST00000474839.5:c.*2847G>C	ENSP00000420470.1:n.*2847G>C
ENST00000483553.5:c.911G>C
ENST00000485349.5:n.681G>C
ENST00000491994.1:c.470G>C
NM_006929.4:c.3475G>C	NP_008860.4:p.Glu1159Gln
XR_001743586.2:n.3574G>C
XR_926301.3:n.3491G>C
NM_006929.5:c.3475G>C MANE Select	NP_008860.4:p.Glu1159Gln