Canonical Allele Identifier: CA363490137

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937162C>A (hg19) ; chr6:g.31969385C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969385C>A , CM000668.2:g.31969385C>A	GRCh38
NC_000006.11:g.31937162C>A , CM000668.1:g.31937162C>A	GRCh37
NC_000006.10:g.32045141C>A	NCBI36
NG_032652.1:g.15582C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2459C>A	ENSP00000419905.1:n.*2459C>A
ENST00000483553.6:c.*472C>A	ENSP00000420332.2:n.*472C>A
ENST00000485349.6:n.3981C>A
ENST00000491994.2:c.3505C>A	ENSP00000417586.2:p.Leu1169Met
ENST00000494058.6:n.3807C>A
ENST00000697831.1:c.3436C>A	ENSP00000513453.1:p.Leu1146Met
ENST00000697832.1:n.3658C>A
ENST00000697833.1:c.*453C>A	ENSP00000513454.1:n.*453C>A
ENST00000697834.1:n.4129C>A
ENST00000697835.1:c.*3023C>A	ENSP00000513455.1:n.*3023C>A
ENST00000697836.1:n.3836C>A
ENST00000697837.1:c.*621C>A	ENSP00000513456.1:n.*621C>A
ENST00000697838.1:c.3370C>A	ENSP00000513457.1:p.Leu1124Met
ENST00000697839.1:n.4223C>A
ENST00000697840.1:c.3541C>A	ENSP00000513458.1:p.Leu1181Met
ENST00000697841.1:n.4322C>A
ENST00000697842.1:n.3760C>A
ENST00000375394.7:c.3505C>A MANE Select	ENSP00000364543.2:p.Leu1169Met
ENST00000375394.6:c.3505C>A	ENSP00000364543.2:p.Leu1169Met
ENST00000465703.5:n.4141C>A
ENST00000470453.1:n.382+69C>A
ENST00000471818.1:n.434C>A
ENST00000474839.5:c.*2877C>A	ENSP00000420470.1:n.*2877C>A
ENST00000483553.5:c.941C>A
ENST00000485349.5:n.711C>A
ENST00000491994.1:c.500C>A
NM_006929.4:c.3505C>A	NP_008860.4:p.Leu1169Met
XR_001743586.2:n.3604C>A
XR_926301.3:n.3521C>A
NM_006929.5:c.3505C>A MANE Select	NP_008860.4:p.Leu1169Met