Canonical Allele Identifier: CA449814263

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937471G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969694G>C , CM000668.2:g.31969694G>C	GRCh38
NC_000006.11:g.31937471G>C , CM000668.1:g.31937471G>C	GRCh37
NC_000006.10:g.32045450G>C	NCBI36
NG_032652.1:g.15891G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2768G>C	ENSP00000419905.1:n.*2768G>C
ENST00000485349.6:n.4196G>C
ENST00000491994.2:c.*262G>C	ENSP00000417586.2:n.*262G>C
ENST00000494058.6:n.4022G>C
ENST00000697831.1:c.3651G>C	ENSP00000513453.1:p.Ala1217=
ENST00000697832.1:n.3873G>C
ENST00000697834.1:n.4438G>C
ENST00000697835.1:c.*3238G>C	ENSP00000513455.1:n.*3238G>C
ENST00000697836.1:n.4074G>C
ENST00000697837.1:c.*836G>C	ENSP00000513456.1:n.*836G>C
ENST00000697838.1:c.3585G>C	ENSP00000513457.1:p.Ala1195=
ENST00000697839.1:n.4532G>C
ENST00000697840.1:c.3756G>C	ENSP00000513458.1:p.Ala1252=
ENST00000697841.1:n.4631G>C
ENST00000697842.1:n.3975G>C
ENST00000375394.7:c.3720G>C MANE Select	ENSP00000364543.2:p.Ala1240=
ENST00000375394.6:c.3720G>C	ENSP00000364543.2:p.Ala1240=
ENST00000465703.5:n.4450G>C
ENST00000471818.1:n.649G>C
ENST00000474839.5:c.*3092G>C	ENSP00000420470.1:n.*3092G>C
ENST00000483553.5:c.1250G>C
ENST00000491994.1:c.809G>C
NM_006929.4:c.3720G>C	NP_008860.4:p.Ala1240=
XR_926301.3:n.3736G>C
NM_006929.5:c.3720G>C MANE Select	NP_008860.4:p.Ala1240=