Canonical Allele Identifier: CA3729808

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31967360T>C , CM000668.2:g.31967360T>C	GRCh38
NC_000006.11:g.31935137T>C , CM000668.1:g.31935137T>C	GRCh37
NC_000006.10:g.32043116T>C	NCBI36
NG_032652.1:g.13557T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006929.5:c.2566T>C MANE Select	NP_008860.4:p.Leu856=
ENST00000375394.7:c.2566T>C MANE Select	ENSP00000364543.2:p.Leu856=
NM_006929.4:c.2566T>C	NP_008860.4:p.Leu856=
ENST00000375394.6:c.2566T>C	ENSP00000364543.2:p.Leu856=
ENST00000461073.6:c.*1585T>C	ENSP00000419905.1:n.*1585T>C
ENST00000461915.5:n.245T>C
ENST00000465703.5:n.3065T>C
ENST00000474839.5:c.*1938T>C	ENSP00000420470.1:n.*1938T>C
ENST00000483553.6:c.2566T>C	ENSP00000420332.2:p.Leu856=
ENST00000484835.1:n.127T>C
ENST00000485349.6:n.2607T>C
ENST00000491994.2:c.2566T>C	ENSP00000417586.2:p.Leu856=
ENST00000494058.5:n.209T>C
ENST00000494058.6:n.2623T>C
ENST00000697831.1:c.2566T>C	ENSP00000513453.1:p.Leu856=
ENST00000697832.1:n.2719T>C
ENST00000697833.1:c.2566T>C	ENSP00000513454.1:p.Leu856=
ENST00000697834.1:n.2618T>C
ENST00000697835.1:c.*2084T>C	ENSP00000513455.1:n.*2084T>C
ENST00000697836.1:n.2602T>C
ENST00000697837.1:c.2566T>C	ENSP00000513456.1:p.Leu856=
ENST00000697838.1:c.2431T>C	ENSP00000513457.1:p.Leu811=
ENST00000697839.1:n.2849T>C
ENST00000697840.1:c.2602T>C	ENSP00000513458.1:p.Leu868=
ENST00000697841.1:n.3138T>C
ENST00000697842.1:n.2576T>C
XM_006715168.2:c.2566T>C	XP_006715231.1:p.Leu856=
XM_011514815.1:c.2566T>C	XP_011513117.1:p.Leu856=
XM_011514815.3:c.2566T>C	XP_011513117.1:p.Leu856=
XR_001743586.2:n.2602T>C
XR_926301.1:n.2654T>C
XR_926301.3:n.2602T>C