Canonical Allele Identifier: CA363492649

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937487C>T (hg19) ; chr6:g.31969710C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969710C>T , CM000668.2:g.31969710C>T	GRCh38
NC_000006.11:g.31937487C>T , CM000668.1:g.31937487C>T	GRCh37
NC_000006.10:g.32045466C>T	NCBI36
NG_032652.1:g.15907C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2784C>T	ENSP00000419905.1:n.*2784C>T
ENST00000485349.6:n.4212C>T
ENST00000491994.2:c.*278C>T	ENSP00000417586.2:n.*278C>T
ENST00000494058.6:n.4038C>T
ENST00000697831.1:c.3667C>T	ENSP00000513453.1:p.Gln1223Ter
ENST00000697832.1:n.3889C>T
ENST00000697834.1:n.4454C>T
ENST00000697835.1:c.*3254C>T	ENSP00000513455.1:n.*3254C>T
ENST00000697837.1:c.*852C>T	ENSP00000513456.1:n.*852C>T
ENST00000697838.1:c.3601C>T	ENSP00000513457.1:p.Gln1201Ter
ENST00000697839.1:n.4548C>T
ENST00000697840.1:c.3772C>T	ENSP00000513458.1:p.Gln1258Ter
ENST00000697841.1:n.4647C>T
ENST00000697842.1:n.3991C>T
ENST00000375394.7:c.3736C>T MANE Select	ENSP00000364543.2:p.Gln1246Ter
ENST00000375394.6:c.3736C>T	ENSP00000364543.2:p.Gln1246Ter
ENST00000465703.5:n.4466C>T
ENST00000471818.1:n.665C>T
ENST00000474839.5:c.*3108C>T	ENSP00000420470.1:n.*3108C>T
ENST00000483553.5:c.1266C>T
ENST00000491994.1:c.825C>T
NM_006929.4:c.3736C>T	NP_008860.4:p.Gln1246Ter
XR_926301.3:n.3752C>T
NM_006929.5:c.3736C>T MANE Select	NP_008860.4:p.Gln1246Ter