Canonical Allele Identifier: CA363489772

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937108G>C (hg19) ; chr6:g.31969331G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969331G>C , CM000668.2:g.31969331G>C	GRCh38
NC_000006.11:g.31937108G>C , CM000668.1:g.31937108G>C	GRCh37
NC_000006.10:g.32045087G>C	NCBI36
NG_032652.1:g.15528G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2405G>C	ENSP00000419905.1:n.*2405G>C
ENST00000483553.6:c.*418G>C	ENSP00000420332.2:n.*418G>C
ENST00000485349.6:n.3927G>C
ENST00000491994.2:c.3451G>C	ENSP00000417586.2:p.Ala1151Pro
ENST00000494058.6:n.3753G>C
ENST00000697831.1:c.3382G>C	ENSP00000513453.1:p.Ala1128Pro
ENST00000697832.1:n.3604G>C
ENST00000697833.1:c.*399G>C	ENSP00000513454.1:n.*399G>C
ENST00000697834.1:n.4075G>C
ENST00000697835.1:c.*2969G>C	ENSP00000513455.1:n.*2969G>C
ENST00000697836.1:n.3782G>C
ENST00000697837.1:c.*567G>C	ENSP00000513456.1:n.*567G>C
ENST00000697838.1:c.3316G>C	ENSP00000513457.1:p.Ala1106Pro
ENST00000697839.1:n.4169G>C
ENST00000697840.1:c.3487G>C	ENSP00000513458.1:p.Ala1163Pro
ENST00000697841.1:n.4268G>C
ENST00000697842.1:n.3706G>C
ENST00000375394.7:c.3451G>C MANE Select	ENSP00000364543.2:p.Ala1151Pro
ENST00000375394.6:c.3451G>C	ENSP00000364543.2:p.Ala1151Pro
ENST00000465703.5:n.4087G>C
ENST00000470453.1:n.382+15G>C
ENST00000471818.1:n.380G>C
ENST00000474839.5:c.*2823G>C	ENSP00000420470.1:n.*2823G>C
ENST00000483553.5:c.887G>C
ENST00000485349.5:n.657G>C
ENST00000491994.1:c.446G>C
NM_006929.4:c.3451G>C	NP_008860.4:p.Ala1151Pro
XR_001743586.2:n.3550G>C
XR_926301.3:n.3467G>C
NM_006929.5:c.3451G>C MANE Select	NP_008860.4:p.Ala1151Pro