Canonical Allele Identifier: CA449814288

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937480C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969703C>G , CM000668.2:g.31969703C>G	GRCh38
NC_000006.11:g.31937480C>G , CM000668.1:g.31937480C>G	GRCh37
NC_000006.10:g.32045459C>G	NCBI36
NG_032652.1:g.15900C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2777C>G	ENSP00000419905.1:n.*2777C>G
ENST00000485349.6:n.4205C>G
ENST00000491994.2:c.*271C>G	ENSP00000417586.2:n.*271C>G
ENST00000494058.6:n.4031C>G
ENST00000697831.1:c.3660C>G	ENSP00000513453.1:p.Leu1220=
ENST00000697832.1:n.3882C>G
ENST00000697834.1:n.4447C>G
ENST00000697835.1:c.*3247C>G	ENSP00000513455.1:n.*3247C>G
ENST00000697837.1:c.*845C>G	ENSP00000513456.1:n.*845C>G
ENST00000697838.1:c.3594C>G	ENSP00000513457.1:p.Leu1198=
ENST00000697839.1:n.4541C>G
ENST00000697840.1:c.3765C>G	ENSP00000513458.1:p.Leu1255=
ENST00000697841.1:n.4640C>G
ENST00000697842.1:n.3984C>G
ENST00000375394.7:c.3729C>G MANE Select	ENSP00000364543.2:p.Leu1243=
ENST00000375394.6:c.3729C>G	ENSP00000364543.2:p.Leu1243=
ENST00000465703.5:n.4459C>G
ENST00000471818.1:n.658C>G
ENST00000474839.5:c.*3101C>G	ENSP00000420470.1:n.*3101C>G
ENST00000483553.5:c.1259C>G
ENST00000491994.1:c.818C>G
NM_006929.4:c.3729C>G	NP_008860.4:p.Leu1243=
XR_926301.3:n.3745C>G
NM_006929.5:c.3729C>G MANE Select	NP_008860.4:p.Leu1243=