Canonical Allele Identifier: CA363489859

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937125G>C (hg19) ; chr6:g.31969348G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969348G>C , CM000668.2:g.31969348G>C	GRCh38
NC_000006.11:g.31937125G>C , CM000668.1:g.31937125G>C	GRCh37
NC_000006.10:g.32045104G>C	NCBI36
NG_032652.1:g.15545G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2422G>C	ENSP00000419905.1:n.*2422G>C
ENST00000483553.6:c.*435G>C	ENSP00000420332.2:n.*435G>C
ENST00000485349.6:n.3944G>C
ENST00000491994.2:c.3468G>C	ENSP00000417586.2:p.Gln1156His
ENST00000494058.6:n.3770G>C
ENST00000697831.1:c.3399G>C	ENSP00000513453.1:p.Gln1133His
ENST00000697832.1:n.3621G>C
ENST00000697833.1:c.*416G>C	ENSP00000513454.1:n.*416G>C
ENST00000697834.1:n.4092G>C
ENST00000697835.1:c.*2986G>C	ENSP00000513455.1:n.*2986G>C
ENST00000697836.1:n.3799G>C
ENST00000697837.1:c.*584G>C	ENSP00000513456.1:n.*584G>C
ENST00000697838.1:c.3333G>C	ENSP00000513457.1:p.Gln1111His
ENST00000697839.1:n.4186G>C
ENST00000697840.1:c.3504G>C	ENSP00000513458.1:p.Gln1168His
ENST00000697841.1:n.4285G>C
ENST00000697842.1:n.3723G>C
ENST00000375394.7:c.3468G>C MANE Select	ENSP00000364543.2:p.Gln1156His
ENST00000375394.6:c.3468G>C	ENSP00000364543.2:p.Gln1156His
ENST00000465703.5:n.4104G>C
ENST00000470453.1:n.382+32G>C
ENST00000471818.1:n.397G>C
ENST00000474839.5:c.*2840G>C	ENSP00000420470.1:n.*2840G>C
ENST00000483553.5:c.904G>C
ENST00000485349.5:n.674G>C
ENST00000491994.1:c.463G>C
NM_006929.4:c.3468G>C	NP_008860.4:p.Gln1156His
XR_001743586.2:n.3567G>C
XR_926301.3:n.3484G>C
NM_006929.5:c.3468G>C MANE Select	NP_008860.4:p.Gln1156His