Canonical Allele Identifier: CA449814169

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937399G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969622G>C , CM000668.2:g.31969622G>C	GRCh38
NC_000006.11:g.31937399G>C , CM000668.1:g.31937399G>C	GRCh37
NC_000006.10:g.32045378G>C	NCBI36
NG_032652.1:g.15819G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2696G>C	ENSP00000419905.1:n.*2696G>C
ENST00000485349.6:n.4124G>C
ENST00000491994.2:c.*190G>C	ENSP00000417586.2:n.*190G>C
ENST00000494058.6:n.3950G>C
ENST00000697831.1:c.3579G>C	ENSP00000513453.1:p.Leu1193=
ENST00000697832.1:n.3801G>C
ENST00000697834.1:n.4366G>C
ENST00000697835.1:c.*3166G>C	ENSP00000513455.1:n.*3166G>C
ENST00000697836.1:n.4002G>C
ENST00000697837.1:c.*764G>C	ENSP00000513456.1:n.*764G>C
ENST00000697838.1:c.3513G>C	ENSP00000513457.1:p.Leu1171=
ENST00000697839.1:n.4460G>C
ENST00000697840.1:c.3684G>C	ENSP00000513458.1:p.Leu1228=
ENST00000697841.1:n.4559G>C
ENST00000697842.1:n.3903G>C
ENST00000375394.7:c.3648G>C MANE Select	ENSP00000364543.2:p.Leu1216=
ENST00000375394.6:c.3648G>C	ENSP00000364543.2:p.Leu1216=
ENST00000465703.5:n.4378G>C
ENST00000471818.1:n.577G>C
ENST00000474839.5:c.*3020G>C	ENSP00000420470.1:n.*3020G>C
ENST00000483553.5:c.1178G>C
ENST00000491994.1:c.737G>C
NM_006929.4:c.3648G>C	NP_008860.4:p.Leu1216=
XR_926301.3:n.3664G>C
NM_006929.5:c.3648G>C MANE Select	NP_008860.4:p.Leu1216=