Canonical Allele Identifier: CA363490708

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937302A>C (hg19) ; chr6:g.31969525A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969525A>C , CM000668.2:g.31969525A>C	GRCh38
NC_000006.11:g.31937302A>C , CM000668.1:g.31937302A>C	GRCh37
NC_000006.10:g.32045281A>C	NCBI36
NG_032652.1:g.15722A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2599A>C	ENSP00000419905.1:n.*2599A>C
ENST00000485349.6:n.4027A>C
ENST00000491994.2:c.*93A>C	ENSP00000417586.2:n.*93A>C
ENST00000494058.6:n.3853A>C
ENST00000697831.1:c.3482A>C	ENSP00000513453.1:p.Glu1161Ala
ENST00000697832.1:n.3704A>C
ENST00000697833.1:c.*499A>C	ENSP00000513454.1:n.*499A>C
ENST00000697834.1:n.4269A>C
ENST00000697835.1:c.*3069A>C	ENSP00000513455.1:n.*3069A>C
ENST00000697836.1:n.3905A>C
ENST00000697837.1:c.*667A>C	ENSP00000513456.1:n.*667A>C
ENST00000697838.1:c.3416A>C	ENSP00000513457.1:p.Glu1139Ala
ENST00000697839.1:n.4363A>C
ENST00000697840.1:c.3587A>C	ENSP00000513458.1:p.Glu1196Ala
ENST00000697841.1:n.4462A>C
ENST00000697842.1:n.3806A>C
ENST00000375394.7:c.3551A>C MANE Select	ENSP00000364543.2:p.Glu1184Ala
ENST00000375394.6:c.3551A>C	ENSP00000364543.2:p.Glu1184Ala
ENST00000465703.5:n.4281A>C
ENST00000470453.1:n.393A>C
ENST00000471818.1:n.480A>C
ENST00000474839.5:c.*2923A>C	ENSP00000420470.1:n.*2923A>C
ENST00000483553.5:c.1081A>C
ENST00000491994.1:c.640A>C
NM_006929.4:c.3551A>C	NP_008860.4:p.Glu1184Ala
XR_926301.3:n.3567A>C
NM_006929.5:c.3551A>C MANE Select	NP_008860.4:p.Glu1184Ala