Canonical Allele Identifier: CA449814121

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937351T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969574T>C , CM000668.2:g.31969574T>C	GRCh38
NC_000006.11:g.31937351T>C , CM000668.1:g.31937351T>C	GRCh37
NC_000006.10:g.32045330T>C	NCBI36
NG_032652.1:g.15771T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2648T>C	ENSP00000419905.1:n.*2648T>C
ENST00000485349.6:n.4076T>C
ENST00000491994.2:c.*142T>C	ENSP00000417586.2:n.*142T>C
ENST00000494058.6:n.3902T>C
ENST00000697831.1:c.3531T>C	ENSP00000513453.1:p.Ile1177=
ENST00000697832.1:n.3753T>C
ENST00000697833.1:c.*548T>C	ENSP00000513454.1:n.*548T>C
ENST00000697834.1:n.4318T>C
ENST00000697835.1:c.*3118T>C	ENSP00000513455.1:n.*3118T>C
ENST00000697836.1:n.3954T>C
ENST00000697837.1:c.*716T>C	ENSP00000513456.1:n.*716T>C
ENST00000697838.1:c.3465T>C	ENSP00000513457.1:p.Ile1155=
ENST00000697839.1:n.4412T>C
ENST00000697840.1:c.3636T>C	ENSP00000513458.1:p.Ile1212=
ENST00000697841.1:n.4511T>C
ENST00000697842.1:n.3855T>C
ENST00000375394.7:c.3600T>C MANE Select	ENSP00000364543.2:p.Ile1200=
ENST00000375394.6:c.3600T>C	ENSP00000364543.2:p.Ile1200=
ENST00000465703.5:n.4330T>C
ENST00000470453.1:n.442T>C
ENST00000471818.1:n.529T>C
ENST00000474839.5:c.*2972T>C	ENSP00000420470.1:n.*2972T>C
ENST00000483553.5:c.1130T>C
ENST00000491994.1:c.689T>C
NM_006929.4:c.3600T>C	NP_008860.4:p.Ile1200=
XR_926301.3:n.3616T>C
NM_006929.5:c.3600T>C MANE Select	NP_008860.4:p.Ile1200=