Canonical Allele Identifier: CA363491765

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937398T>G (hg19) ; chr6:g.31969621T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969621T>G , CM000668.2:g.31969621T>G	GRCh38
NC_000006.11:g.31937398T>G , CM000668.1:g.31937398T>G	GRCh37
NC_000006.10:g.32045377T>G	NCBI36
NG_032652.1:g.15818T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2695T>G	ENSP00000419905.1:n.*2695T>G
ENST00000485349.6:n.4123T>G
ENST00000491994.2:c.*189T>G	ENSP00000417586.2:n.*189T>G
ENST00000494058.6:n.3949T>G
ENST00000697831.1:c.3578T>G	ENSP00000513453.1:p.Leu1193Arg
ENST00000697832.1:n.3800T>G
ENST00000697834.1:n.4365T>G
ENST00000697835.1:c.*3165T>G	ENSP00000513455.1:n.*3165T>G
ENST00000697836.1:n.4001T>G
ENST00000697837.1:c.*763T>G	ENSP00000513456.1:n.*763T>G
ENST00000697838.1:c.3512T>G	ENSP00000513457.1:p.Leu1171Arg
ENST00000697839.1:n.4459T>G
ENST00000697840.1:c.3683T>G	ENSP00000513458.1:p.Leu1228Arg
ENST00000697841.1:n.4558T>G
ENST00000697842.1:n.3902T>G
ENST00000375394.7:c.3647T>G MANE Select	ENSP00000364543.2:p.Leu1216Arg
ENST00000375394.6:c.3647T>G	ENSP00000364543.2:p.Leu1216Arg
ENST00000465703.5:n.4377T>G
ENST00000471818.1:n.576T>G
ENST00000474839.5:c.*3019T>G	ENSP00000420470.1:n.*3019T>G
ENST00000483553.5:c.1177T>G
ENST00000491994.1:c.736T>G
NM_006929.4:c.3647T>G	NP_008860.4:p.Leu1216Arg
XR_926301.3:n.3663T>G
NM_006929.5:c.3647T>G MANE Select	NP_008860.4:p.Leu1216Arg