Canonical Allele Identifier: CA363492680

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937490T>A (hg19) ; chr6:g.31969713T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969713T>A , CM000668.2:g.31969713T>A	GRCh38
NC_000006.11:g.31937490T>A , CM000668.1:g.31937490T>A	GRCh37
NC_000006.10:g.32045469T>A	NCBI36
NG_032652.1:g.15910T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2787T>A	ENSP00000419905.1:n.*2787T>A
ENST00000485349.6:n.4215T>A
ENST00000491994.2:c.*281T>A	ENSP00000417586.2:n.*281T>A
ENST00000494058.6:n.4041T>A
ENST00000697831.1:c.3670T>A	ENSP00000513453.1:p.Ter1224Arg
ENST00000697832.1:n.3892T>A
ENST00000697834.1:n.4457T>A
ENST00000697835.1:c.*3257T>A	ENSP00000513455.1:n.*3257T>A
ENST00000697837.1:c.*855T>A	ENSP00000513456.1:n.*855T>A
ENST00000697838.1:c.3604T>A	ENSP00000513457.1:p.Ter1202Arg
ENST00000697839.1:n.4551T>A
ENST00000697840.1:c.3775T>A	ENSP00000513458.1:p.Ter1259Arg
ENST00000697841.1:n.4650T>A
ENST00000697842.1:n.3994T>A
ENST00000375394.7:c.3739T>A MANE Select	ENSP00000364543.2:p.Ter1247Arg
ENST00000375394.6:c.3739T>A	ENSP00000364543.2:p.Ter1247Arg
ENST00000465703.5:n.4469T>A
ENST00000471818.1:n.668T>A
ENST00000474839.5:c.*3111T>A	ENSP00000420470.1:n.*3111T>A
ENST00000483553.5:c.1269T>A
ENST00000491994.1:c.828T>A
NM_006929.4:c.3739T>A	NP_008860.4:p.Ter1247Arg
XR_926301.3:n.3755T>A
NM_006929.5:c.3739T>A MANE Select	NP_008860.4:p.Ter1247Arg