Canonical Allele Identifier: CA363490188

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937168G>C (hg19) ; chr6:g.31969391G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969391G>C , CM000668.2:g.31969391G>C	GRCh38
NC_000006.11:g.31937168G>C , CM000668.1:g.31937168G>C	GRCh37
NC_000006.10:g.32045147G>C	NCBI36
NG_032652.1:g.15588G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2465G>C	ENSP00000419905.1:n.*2465G>C
ENST00000483553.6:c.*478G>C	ENSP00000420332.2:n.*478G>C
ENST00000485349.6:n.3987G>C
ENST00000491994.2:c.3511G>C	ENSP00000417586.2:p.Glu1171Gln
ENST00000494058.6:n.3813G>C
ENST00000697831.1:c.3442G>C	ENSP00000513453.1:p.Glu1148Gln
ENST00000697832.1:n.3664G>C
ENST00000697833.1:c.*459G>C	ENSP00000513454.1:n.*459G>C
ENST00000697834.1:n.4135G>C
ENST00000697835.1:c.*3029G>C	ENSP00000513455.1:n.*3029G>C
ENST00000697836.1:n.3842G>C
ENST00000697837.1:c.*627G>C	ENSP00000513456.1:n.*627G>C
ENST00000697838.1:c.3376G>C	ENSP00000513457.1:p.Glu1126Gln
ENST00000697839.1:n.4229G>C
ENST00000697840.1:c.3547G>C	ENSP00000513458.1:p.Glu1183Gln
ENST00000697841.1:n.4328G>C
ENST00000697842.1:n.3766G>C
ENST00000375394.7:c.3511G>C MANE Select	ENSP00000364543.2:p.Glu1171Gln
ENST00000375394.6:c.3511G>C	ENSP00000364543.2:p.Glu1171Gln
ENST00000465703.5:n.4147G>C
ENST00000470453.1:n.382+75G>C
ENST00000471818.1:n.440G>C
ENST00000474839.5:c.*2883G>C	ENSP00000420470.1:n.*2883G>C
ENST00000483553.5:c.947G>C
ENST00000485349.5:n.717G>C
ENST00000491994.1:c.506G>C
NM_006929.4:c.3511G>C	NP_008860.4:p.Glu1171Gln
XR_001743586.2:n.3610G>C
XR_926301.3:n.3527G>C
NM_006929.5:c.3511G>C MANE Select	NP_008860.4:p.Glu1171Gln