Canonical Allele Identifier: CA363490837

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937314T>G (hg19) ; chr6:g.31969537T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969537T>G , CM000668.2:g.31969537T>G	GRCh38
NC_000006.11:g.31937314T>G , CM000668.1:g.31937314T>G	GRCh37
NC_000006.10:g.32045293T>G	NCBI36
NG_032652.1:g.15734T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2611T>G	ENSP00000419905.1:n.*2611T>G
ENST00000485349.6:n.4039T>G
ENST00000491994.2:c.*105T>G	ENSP00000417586.2:n.*105T>G
ENST00000494058.6:n.3865T>G
ENST00000697831.1:c.3494T>G	ENSP00000513453.1:p.Leu1165Arg
ENST00000697832.1:n.3716T>G
ENST00000697833.1:c.*511T>G	ENSP00000513454.1:n.*511T>G
ENST00000697834.1:n.4281T>G
ENST00000697835.1:c.*3081T>G	ENSP00000513455.1:n.*3081T>G
ENST00000697836.1:n.3917T>G
ENST00000697837.1:c.*679T>G	ENSP00000513456.1:n.*679T>G
ENST00000697838.1:c.3428T>G	ENSP00000513457.1:p.Leu1143Arg
ENST00000697839.1:n.4375T>G
ENST00000697840.1:c.3599T>G	ENSP00000513458.1:p.Leu1200Arg
ENST00000697841.1:n.4474T>G
ENST00000697842.1:n.3818T>G
ENST00000375394.7:c.3563T>G MANE Select	ENSP00000364543.2:p.Leu1188Arg
ENST00000375394.6:c.3563T>G	ENSP00000364543.2:p.Leu1188Arg
ENST00000465703.5:n.4293T>G
ENST00000470453.1:n.405T>G
ENST00000471818.1:n.492T>G
ENST00000474839.5:c.*2935T>G	ENSP00000420470.1:n.*2935T>G
ENST00000483553.5:c.1093T>G
ENST00000491994.1:c.652T>G
NM_006929.4:c.3563T>G	NP_008860.4:p.Leu1188Arg
XR_926301.3:n.3579T>G
NM_006929.5:c.3563T>G MANE Select	NP_008860.4:p.Leu1188Arg