Canonical Allele Identifier: CA1619384385

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969518T= , CM000668.2:g.31969518T=	GRCh38
NC_000006.11:g.31937295T= , CM000668.1:g.31937295T=	GRCh37
NC_000006.10:g.32045274T=	NCBI36
NG_032652.1:g.15715T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2592T=	ENSP00000419905.1:n.*2592T=
ENST00000485349.6:n.4020T=
ENST00000491994.2:c.*86T=	ENSP00000417586.2:n.*86T=
ENST00000494058.6:n.3846T=
ENST00000697831.1:c.3475T=	ENSP00000513453.1:p.Phe1159=
ENST00000697832.1:n.3697T=
ENST00000697833.1:c.*492T=	ENSP00000513454.1:n.*492T=
ENST00000697834.1:n.4262T=
ENST00000697835.1:c.*3062T=	ENSP00000513455.1:n.*3062T=
ENST00000697836.1:n.3898T=
ENST00000697837.1:c.*660T=	ENSP00000513456.1:n.*660T=
ENST00000697838.1:c.3409T=	ENSP00000513457.1:p.Phe1137=
ENST00000697839.1:n.4356T=
ENST00000697840.1:c.3580T=	ENSP00000513458.1:p.Phe1194=
ENST00000697841.1:n.4455T=
ENST00000697842.1:n.3799T=
ENST00000375394.7:c.3544T= MANE Select	ENSP00000364543.2:p.Phe1182=
ENST00000375394.6:c.3544T=	ENSP00000364543.2:p.Phe1182=
ENST00000465703.5:n.4274T=
ENST00000470453.1:n.386T=
ENST00000471818.1:n.473T=
ENST00000474839.5:c.*2916T=	ENSP00000420470.1:n.*2916T=
ENST00000483553.5:c.1074T=
ENST00000491994.1:c.633T=
NM_006929.4:c.3544T=	NP_008860.4:p.Phe1182=
XR_926301.3:n.3560T=
NM_006929.5:c.3544T= MANE Select	NP_008860.4:p.Phe1182=