Canonical Allele Identifier: CA363490788

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937308C>A (hg19) ; chr6:g.31969531C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969531C>A , CM000668.2:g.31969531C>A	GRCh38
NC_000006.11:g.31937308C>A , CM000668.1:g.31937308C>A	GRCh37
NC_000006.10:g.32045287C>A	NCBI36
NG_032652.1:g.15728C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2605C>A	ENSP00000419905.1:n.*2605C>A
ENST00000485349.6:n.4033C>A
ENST00000491994.2:c.*99C>A	ENSP00000417586.2:n.*99C>A
ENST00000494058.6:n.3859C>A
ENST00000697831.1:c.3488C>A	ENSP00000513453.1:p.Ala1163Glu
ENST00000697832.1:n.3710C>A
ENST00000697833.1:c.*505C>A	ENSP00000513454.1:n.*505C>A
ENST00000697834.1:n.4275C>A
ENST00000697835.1:c.*3075C>A	ENSP00000513455.1:n.*3075C>A
ENST00000697836.1:n.3911C>A
ENST00000697837.1:c.*673C>A	ENSP00000513456.1:n.*673C>A
ENST00000697838.1:c.3422C>A	ENSP00000513457.1:p.Ala1141Glu
ENST00000697839.1:n.4369C>A
ENST00000697840.1:c.3593C>A	ENSP00000513458.1:p.Ala1198Glu
ENST00000697841.1:n.4468C>A
ENST00000697842.1:n.3812C>A
ENST00000375394.7:c.3557C>A MANE Select	ENSP00000364543.2:p.Ala1186Glu
ENST00000375394.6:c.3557C>A	ENSP00000364543.2:p.Ala1186Glu
ENST00000465703.5:n.4287C>A
ENST00000470453.1:n.399C>A
ENST00000471818.1:n.486C>A
ENST00000474839.5:c.*2929C>A	ENSP00000420470.1:n.*2929C>A
ENST00000483553.5:c.1087C>A
ENST00000491994.1:c.646C>A
NM_006929.4:c.3557C>A	NP_008860.4:p.Ala1186Glu
XR_926301.3:n.3573C>A
NM_006929.5:c.3557C>A MANE Select	NP_008860.4:p.Ala1186Glu