Canonical Allele Identifier: CA363491272

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937354G>C (hg19) ; chr6:g.31969577G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969577G>C , CM000668.2:g.31969577G>C	GRCh38
NC_000006.11:g.31937354G>C , CM000668.1:g.31937354G>C	GRCh37
NC_000006.10:g.32045333G>C	NCBI36
NG_032652.1:g.15774G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2651G>C	ENSP00000419905.1:n.*2651G>C
ENST00000485349.6:n.4079G>C
ENST00000491994.2:c.*145G>C	ENSP00000417586.2:n.*145G>C
ENST00000494058.6:n.3905G>C
ENST00000697831.1:c.3534G>C	ENSP00000513453.1:p.Gln1178His
ENST00000697832.1:n.3756G>C
ENST00000697833.1:c.*551G>C	ENSP00000513454.1:n.*551G>C
ENST00000697834.1:n.4321G>C
ENST00000697835.1:c.*3121G>C	ENSP00000513455.1:n.*3121G>C
ENST00000697836.1:n.3957G>C
ENST00000697837.1:c.*719G>C	ENSP00000513456.1:n.*719G>C
ENST00000697838.1:c.3468G>C	ENSP00000513457.1:p.Gln1156His
ENST00000697839.1:n.4415G>C
ENST00000697840.1:c.3639G>C	ENSP00000513458.1:p.Gln1213His
ENST00000697841.1:n.4514G>C
ENST00000697842.1:n.3858G>C
ENST00000375394.7:c.3603G>C MANE Select	ENSP00000364543.2:p.Gln1201His
ENST00000375394.6:c.3603G>C	ENSP00000364543.2:p.Gln1201His
ENST00000465703.5:n.4333G>C
ENST00000470453.1:n.445G>C
ENST00000471818.1:n.532G>C
ENST00000474839.5:c.*2975G>C	ENSP00000420470.1:n.*2975G>C
ENST00000483553.5:c.1133G>C
ENST00000491994.1:c.692G>C
NM_006929.4:c.3603G>C	NP_008860.4:p.Gln1201His
XR_926301.3:n.3619G>C
NM_006929.5:c.3603G>C MANE Select	NP_008860.4:p.Gln1201His