Canonical Allele Identifier: CA363492119

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937431A>C (hg19) ; chr6:g.31969654A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969654A>C , CM000668.2:g.31969654A>C	GRCh38
NC_000006.11:g.31937431A>C , CM000668.1:g.31937431A>C	GRCh37
NC_000006.10:g.32045410A>C	NCBI36
NG_032652.1:g.15851A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2728A>C	ENSP00000419905.1:n.*2728A>C
ENST00000485349.6:n.4156A>C
ENST00000491994.2:c.*222A>C	ENSP00000417586.2:n.*222A>C
ENST00000494058.6:n.3982A>C
ENST00000697831.1:c.3611A>C	ENSP00000513453.1:p.Glu1204Ala
ENST00000697832.1:n.3833A>C
ENST00000697834.1:n.4398A>C
ENST00000697835.1:c.*3198A>C	ENSP00000513455.1:n.*3198A>C
ENST00000697836.1:n.4034A>C
ENST00000697837.1:c.*796A>C	ENSP00000513456.1:n.*796A>C
ENST00000697838.1:c.3545A>C	ENSP00000513457.1:p.Glu1182Ala
ENST00000697839.1:n.4492A>C
ENST00000697840.1:c.3716A>C	ENSP00000513458.1:p.Glu1239Ala
ENST00000697841.1:n.4591A>C
ENST00000697842.1:n.3935A>C
ENST00000375394.7:c.3680A>C MANE Select	ENSP00000364543.2:p.Glu1227Ala
ENST00000375394.6:c.3680A>C	ENSP00000364543.2:p.Glu1227Ala
ENST00000465703.5:n.4410A>C
ENST00000471818.1:n.609A>C
ENST00000474839.5:c.*3052A>C	ENSP00000420470.1:n.*3052A>C
ENST00000483553.5:c.1210A>C
ENST00000491994.1:c.769A>C
NM_006929.4:c.3680A>C	NP_008860.4:p.Glu1227Ala
XR_926301.3:n.3696A>C
NM_006929.5:c.3680A>C MANE Select	NP_008860.4:p.Glu1227Ala