Canonical Allele Identifier: CA449703969

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31964289C>T , CM000668.2:g.31964289C>T	GRCh38
NC_000006.11:g.31932066C>T , CM000668.1:g.31932066C>T	GRCh37
NC_000006.10:g.32040045C>T	NCBI36
NG_032652.1:g.10486C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006929.5:c.1918C>T MANE Select	NP_008860.4:p.Leu640=
ENST00000375394.7:c.1918C>T MANE Select	ENSP00000364543.2:p.Leu640=
NM_006929.4:c.1918C>T	NP_008860.4:p.Leu640=
ENST00000375394.6:c.1918C>T	ENSP00000364543.2:p.Leu640=
ENST00000461073.6:c.*937C>T	ENSP00000419905.1:n.*937C>T
ENST00000465703.5:n.2417C>T
ENST00000474839.5:c.*1290C>T	ENSP00000420470.1:n.*1290C>T
ENST00000483553.6:c.1918C>T	ENSP00000420332.2:p.Leu640=
ENST00000485349.6:n.1959C>T
ENST00000491994.2:c.1918C>T	ENSP00000417586.2:p.Leu640=
ENST00000494058.6:n.1975C>T
ENST00000697831.1:c.1918C>T	ENSP00000513453.1:p.Leu640=
ENST00000697832.1:n.2071C>T
ENST00000697833.1:c.1918C>T	ENSP00000513454.1:p.Leu640=
ENST00000697834.1:n.1970C>T
ENST00000697835.1:c.*1436C>T	ENSP00000513455.1:n.*1436C>T
ENST00000697836.1:n.1954C>T
ENST00000697837.1:c.1918C>T	ENSP00000513456.1:p.Leu640=
ENST00000697838.1:c.1783C>T	ENSP00000513457.1:p.Leu595=
ENST00000697839.1:n.2201C>T
ENST00000697840.1:c.1954C>T	ENSP00000513458.1:p.Leu652=
ENST00000697841.1:n.2490C>T
ENST00000697842.1:n.1918C>T
XM_006715168.2:c.1918C>T	XP_006715231.1:p.Leu640=
XM_011514815.1:c.1918C>T	XP_011513117.1:p.Leu640=
XM_011514815.3:c.1918C>T	XP_011513117.1:p.Leu640=
XR_001743586.2:n.1954C>T
XR_926301.1:n.2006C>T
XR_926301.3:n.1954C>T