Canonical Allele Identifier: CA363490049

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937151T>G (hg19) ; chr6:g.31969374T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969374T>G , CM000668.2:g.31969374T>G	GRCh38
NC_000006.11:g.31937151T>G , CM000668.1:g.31937151T>G	GRCh37
NC_000006.10:g.32045130T>G	NCBI36
NG_032652.1:g.15571T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2448T>G	ENSP00000419905.1:n.*2448T>G
ENST00000483553.6:c.*461T>G	ENSP00000420332.2:n.*461T>G
ENST00000485349.6:n.3970T>G
ENST00000491994.2:c.3494T>G	ENSP00000417586.2:p.Leu1165Arg
ENST00000494058.6:n.3796T>G
ENST00000697831.1:c.3425T>G	ENSP00000513453.1:p.Leu1142Arg
ENST00000697832.1:n.3647T>G
ENST00000697833.1:c.*442T>G	ENSP00000513454.1:n.*442T>G
ENST00000697834.1:n.4118T>G
ENST00000697835.1:c.*3012T>G	ENSP00000513455.1:n.*3012T>G
ENST00000697836.1:n.3825T>G
ENST00000697837.1:c.*610T>G	ENSP00000513456.1:n.*610T>G
ENST00000697838.1:c.3359T>G	ENSP00000513457.1:p.Leu1120Arg
ENST00000697839.1:n.4212T>G
ENST00000697840.1:c.3530T>G	ENSP00000513458.1:p.Leu1177Arg
ENST00000697841.1:n.4311T>G
ENST00000697842.1:n.3749T>G
ENST00000375394.7:c.3494T>G MANE Select	ENSP00000364543.2:p.Leu1165Arg
ENST00000375394.6:c.3494T>G	ENSP00000364543.2:p.Leu1165Arg
ENST00000465703.5:n.4130T>G
ENST00000470453.1:n.382+58T>G
ENST00000471818.1:n.423T>G
ENST00000474839.5:c.*2866T>G	ENSP00000420470.1:n.*2866T>G
ENST00000483553.5:c.930T>G
ENST00000485349.5:n.700T>G
ENST00000491994.1:c.489T>G
NM_006929.4:c.3494T>G	NP_008860.4:p.Leu1165Arg
XR_001743586.2:n.3593T>G
XR_926301.3:n.3510T>G
NM_006929.5:c.3494T>G MANE Select	NP_008860.4:p.Leu1165Arg