Canonical Allele Identifier: CA1619377121

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31960044T= , CM000668.2:g.31960044T=	GRCh38
NC_000006.11:g.31927821T= , CM000668.1:g.31927821T=	GRCh37
NC_000006.10:g.32035800T=	NCBI36
NG_032652.1:g.6241T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.161T=	ENSP00000419905.1:p.Leu54=
ENST00000483553.6:c.161T=	ENSP00000420332.2:p.Leu54=
ENST00000485349.6:n.202T=
ENST00000491994.2:c.161T=	ENSP00000417586.2:p.Leu54=
ENST00000494058.6:n.218T=
ENST00000697831.1:c.161T=	ENSP00000513453.1:p.Leu54=
ENST00000697832.1:n.237T=
ENST00000697833.1:c.161T=	ENSP00000513454.1:p.Leu54=
ENST00000697834.1:n.213T=
ENST00000697835.1:c.161T=	ENSP00000513455.1:p.Leu54=
ENST00000697836.1:n.197T=
ENST00000697837.1:c.161T=	ENSP00000513456.1:p.Leu54=
ENST00000697838.1:c.26T=	ENSP00000513457.1:p.Leu9=
ENST00000697839.1:n.183T=
ENST00000697840.1:c.161T=	ENSP00000513458.1:p.Leu54=
ENST00000697841.1:n.172T=
ENST00000697842.1:n.161T=
ENST00000375394.7:c.161T= MANE Select	ENSP00000364543.2:p.Leu54=
ENST00000375394.6:c.161T=	ENSP00000364543.2:p.Leu54=
ENST00000461073.5:c.161T=	ENSP00000419905.1:p.Leu54=
ENST00000465703.5:n.213T=
ENST00000474839.5:c.126+644T=	ENSP00000420470.1:n.126+644T=
ENST00000488648.5:n.237T=
ENST00000628157.1:c.126+644T=	ENSP00000485707.1:n.126+644T=
NM_006929.4:c.161T=	NP_008860.4:p.Leu54=
XM_006715168.2:c.161T=	XP_006715231.1:p.Leu54=
XM_011514815.1:c.161T=	XP_011513117.1:p.Leu54=
XR_926301.1:n.249T=
XM_011514815.3:c.161T=	XP_011513117.1:p.Leu54=
XR_001743586.2:n.197T=
XR_926301.3:n.197T=
NM_006929.5:c.161T= MANE Select	NP_008860.4:p.Leu54=