Canonical Allele Identifier: CA363492558

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937478C>G (hg19) ; chr6:g.31969701C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969701C>G , CM000668.2:g.31969701C>G	GRCh38
NC_000006.11:g.31937478C>G , CM000668.1:g.31937478C>G	GRCh37
NC_000006.10:g.32045457C>G	NCBI36
NG_032652.1:g.15898C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2775C>G	ENSP00000419905.1:n.*2775C>G
ENST00000485349.6:n.4203C>G
ENST00000491994.2:c.*269C>G	ENSP00000417586.2:n.*269C>G
ENST00000494058.6:n.4029C>G
ENST00000697831.1:c.3658C>G	ENSP00000513453.1:p.Leu1220Val
ENST00000697832.1:n.3880C>G
ENST00000697834.1:n.4445C>G
ENST00000697835.1:c.*3245C>G	ENSP00000513455.1:n.*3245C>G
ENST00000697837.1:c.*843C>G	ENSP00000513456.1:n.*843C>G
ENST00000697838.1:c.3592C>G	ENSP00000513457.1:p.Leu1198Val
ENST00000697839.1:n.4539C>G
ENST00000697840.1:c.3763C>G	ENSP00000513458.1:p.Leu1255Val
ENST00000697841.1:n.4638C>G
ENST00000697842.1:n.3982C>G
ENST00000375394.7:c.3727C>G MANE Select	ENSP00000364543.2:p.Leu1243Val
ENST00000375394.6:c.3727C>G	ENSP00000364543.2:p.Leu1243Val
ENST00000465703.5:n.4457C>G
ENST00000471818.1:n.656C>G
ENST00000474839.5:c.*3099C>G	ENSP00000420470.1:n.*3099C>G
ENST00000483553.5:c.1257C>G
ENST00000491994.1:c.816C>G
NM_006929.4:c.3727C>G	NP_008860.4:p.Leu1243Val
XR_926301.3:n.3743C>G
NM_006929.5:c.3727C>G MANE Select	NP_008860.4:p.Leu1243Val