Canonical Allele Identifier: CA363489827

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937118T>A (hg19) ; chr6:g.31969341T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969341T>A , CM000668.2:g.31969341T>A	GRCh38
NC_000006.11:g.31937118T>A , CM000668.1:g.31937118T>A	GRCh37
NC_000006.10:g.32045097T>A	NCBI36
NG_032652.1:g.15538T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2415T>A	ENSP00000419905.1:n.*2415T>A
ENST00000483553.6:c.*428T>A	ENSP00000420332.2:n.*428T>A
ENST00000485349.6:n.3937T>A
ENST00000491994.2:c.3461T>A	ENSP00000417586.2:p.Leu1154Gln
ENST00000494058.6:n.3763T>A
ENST00000697831.1:c.3392T>A	ENSP00000513453.1:p.Leu1131Gln
ENST00000697832.1:n.3614T>A
ENST00000697833.1:c.*409T>A	ENSP00000513454.1:n.*409T>A
ENST00000697834.1:n.4085T>A
ENST00000697835.1:c.*2979T>A	ENSP00000513455.1:n.*2979T>A
ENST00000697836.1:n.3792T>A
ENST00000697837.1:c.*577T>A	ENSP00000513456.1:n.*577T>A
ENST00000697838.1:c.3326T>A	ENSP00000513457.1:p.Leu1109Gln
ENST00000697839.1:n.4179T>A
ENST00000697840.1:c.3497T>A	ENSP00000513458.1:p.Leu1166Gln
ENST00000697841.1:n.4278T>A
ENST00000697842.1:n.3716T>A
ENST00000375394.7:c.3461T>A MANE Select	ENSP00000364543.2:p.Leu1154Gln
ENST00000375394.6:c.3461T>A	ENSP00000364543.2:p.Leu1154Gln
ENST00000465703.5:n.4097T>A
ENST00000470453.1:n.382+25T>A
ENST00000471818.1:n.390T>A
ENST00000474839.5:c.*2833T>A	ENSP00000420470.1:n.*2833T>A
ENST00000483553.5:c.897T>A
ENST00000485349.5:n.667T>A
ENST00000491994.1:c.456T>A
NM_006929.4:c.3461T>A	NP_008860.4:p.Leu1154Gln
XR_001743586.2:n.3560T>A
XR_926301.3:n.3477T>A
NM_006929.5:c.3461T>A MANE Select	NP_008860.4:p.Leu1154Gln