Canonical Allele Identifier: CA363490797

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937310G>C (hg19) ; chr6:g.31969533G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969533G>C , CM000668.2:g.31969533G>C	GRCh38
NC_000006.11:g.31937310G>C , CM000668.1:g.31937310G>C	GRCh37
NC_000006.10:g.32045289G>C	NCBI36
NG_032652.1:g.15730G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2607G>C	ENSP00000419905.1:n.*2607G>C
ENST00000485349.6:n.4035G>C
ENST00000491994.2:c.*101G>C	ENSP00000417586.2:n.*101G>C
ENST00000494058.6:n.3861G>C
ENST00000697831.1:c.3490G>C	ENSP00000513453.1:p.Gly1164Arg
ENST00000697832.1:n.3712G>C
ENST00000697833.1:c.*507G>C	ENSP00000513454.1:n.*507G>C
ENST00000697834.1:n.4277G>C
ENST00000697835.1:c.*3077G>C	ENSP00000513455.1:n.*3077G>C
ENST00000697836.1:n.3913G>C
ENST00000697837.1:c.*675G>C	ENSP00000513456.1:n.*675G>C
ENST00000697838.1:c.3424G>C	ENSP00000513457.1:p.Gly1142Arg
ENST00000697839.1:n.4371G>C
ENST00000697840.1:c.3595G>C	ENSP00000513458.1:p.Gly1199Arg
ENST00000697841.1:n.4470G>C
ENST00000697842.1:n.3814G>C
ENST00000375394.7:c.3559G>C MANE Select	ENSP00000364543.2:p.Gly1187Arg
ENST00000375394.6:c.3559G>C	ENSP00000364543.2:p.Gly1187Arg
ENST00000465703.5:n.4289G>C
ENST00000470453.1:n.401G>C
ENST00000471818.1:n.488G>C
ENST00000474839.5:c.*2931G>C	ENSP00000420470.1:n.*2931G>C
ENST00000483553.5:c.1089G>C
ENST00000491994.1:c.648G>C
NM_006929.4:c.3559G>C	NP_008860.4:p.Gly1187Arg
XR_926301.3:n.3575G>C
NM_006929.5:c.3559G>C MANE Select	NP_008860.4:p.Gly1187Arg