Canonical Allele Identifier: CA3730086

Gene: SKIC2

Linked Data

• dbSNP Id: rs780818507
• ExAC: 6:31937263 A / C
• gnomAD v2: 6-31937263-A-C
• gnomAD v3: 6-31969486-A-C
• gnomAD v4: 6-31969486-A-C
• MyVariant Identifiers: chr6:g.31937263A>C (hg19) ; chr6:g.31969486A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969486A>C , CM000668.2:g.31969486A>C	GRCh38
NC_000006.11:g.31937263A>C , CM000668.1:g.31937263A>C	GRCh37
NC_000006.10:g.32045242A>C	NCBI36
NG_032652.1:g.15683A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2560A>C	ENSP00000419905.1:n.*2560A>C
ENST00000483553.6:c.*573A>C	ENSP00000420332.2:n.*573A>C
ENST00000485349.6:n.4017-29A>C
ENST00000491994.2:c.*54A>C	ENSP00000417586.2:n.*54A>C
ENST00000494058.6:n.3843-29A>C
ENST00000697831.1:c.3472-29A>C	ENSP00000513453.1:n.3472-29A>C
ENST00000697832.1:n.3694-29A>C
ENST00000697833.1:c.*489-29A>C	ENSP00000513454.1:n.*489-29A>C
ENST00000697834.1:n.4230A>C
ENST00000697835.1:c.*3059-29A>C	ENSP00000513455.1:n.*3059-29A>C
ENST00000697836.1:n.3872-6A>C
ENST00000697837.1:c.*657-29A>C	ENSP00000513456.1:n.*657-29A>C
ENST00000697838.1:c.3406-29A>C	ENSP00000513457.1:n.3406-29A>C
ENST00000697839.1:n.4324A>C
ENST00000697840.1:c.3577-29A>C	ENSP00000513458.1:n.3577-29A>C
ENST00000697841.1:n.4423A>C
ENST00000697842.1:n.3796-29A>C
ENST00000375394.7:c.3541-29A>C MANE Select	ENSP00000364543.2:n.3541-29A>C
ENST00000375394.6:c.3541-29A>C	ENSP00000364543.2:n.3541-29A>C
ENST00000465703.5:n.4242A>C
ENST00000470453.1:n.383-29A>C
ENST00000471818.1:n.470-29A>C
ENST00000474839.5:c.*2913-29A>C	ENSP00000420470.1:n.*2913-29A>C
ENST00000483553.5:c.1042A>C
ENST00000491994.1:c.601A>C
NM_006929.4:c.3541-29A>C	NP_008860.4:n.3541-29A>C
XR_001743586.2:n.3705A>C
XR_926301.3:n.3557-29A>C
NM_006929.5:c.3541-29A>C MANE Select	NP_008860.4:n.3541-29A>C