Canonical Allele Identifier: CA363490630

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937295T>A (hg19) ; chr6:g.31969518T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2592T>A	ENSP00000419905.1:n.*2592T>A
ENST00000485349.6:n.4020T>A
ENST00000491994.2:c.*86T>A	ENSP00000417586.2:n.*86T>A
ENST00000494058.6:n.3846T>A
ENST00000697831.1:c.3475T>A	ENSP00000513453.1:p.Phe1159Ile
ENST00000697832.1:n.3697T>A
ENST00000697833.1:c.*492T>A	ENSP00000513454.1:n.*492T>A
ENST00000697834.1:n.4262T>A
ENST00000697835.1:c.*3062T>A	ENSP00000513455.1:n.*3062T>A
ENST00000697836.1:n.3898T>A
ENST00000697837.1:c.*660T>A	ENSP00000513456.1:n.*660T>A
ENST00000697838.1:c.3409T>A	ENSP00000513457.1:p.Phe1137Ile
ENST00000697839.1:n.4356T>A
ENST00000697840.1:c.3580T>A	ENSP00000513458.1:p.Phe1194Ile
ENST00000697841.1:n.4455T>A
ENST00000697842.1:n.3799T>A
ENST00000375394.7:c.3544T>A MANE Select	ENSP00000364543.2:p.Phe1182Ile
ENST00000375394.6:c.3544T>A	ENSP00000364543.2:p.Phe1182Ile
ENST00000465703.5:n.4274T>A
ENST00000470453.1:n.386T>A
ENST00000471818.1:n.473T>A
ENST00000474839.5:c.*2916T>A	ENSP00000420470.1:n.*2916T>A
ENST00000483553.5:c.1074T>A
ENST00000491994.1:c.633T>A
NM_006929.4:c.3544T>A	NP_008860.4:p.Phe1182Ile
XR_926301.3:n.3560T>A
NM_006929.5:c.3544T>A MANE Select	NP_008860.4:p.Phe1182Ile