Canonical Allele Identifier: CA3730094

Gene: SKIC2

Linked Data

• dbSNP Id: rs772461288
• ExAC: 6:31937340 G / A
• gnomAD v2: 6-31937340-G-A
• MyVariant Identifiers: chr6:g.31937340G>A (hg19) ; chr6:g.31969563G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969563G>A , CM000668.2:g.31969563G>A	GRCh38
NC_000006.11:g.31937340G>A , CM000668.1:g.31937340G>A	GRCh37
NC_000006.10:g.32045319G>A	NCBI36
NG_032652.1:g.15760G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2637G>A	ENSP00000419905.1:n.*2637G>A
ENST00000485349.6:n.4065G>A
ENST00000491994.2:c.*131G>A	ENSP00000417586.2:n.*131G>A
ENST00000494058.6:n.3891G>A
ENST00000697831.1:c.3520G>A	ENSP00000513453.1:p.Val1174Ile
ENST00000697832.1:n.3742G>A
ENST00000697833.1:c.*537G>A	ENSP00000513454.1:n.*537G>A
ENST00000697834.1:n.4307G>A
ENST00000697835.1:c.*3107G>A	ENSP00000513455.1:n.*3107G>A
ENST00000697836.1:n.3943G>A
ENST00000697837.1:c.*705G>A	ENSP00000513456.1:n.*705G>A
ENST00000697838.1:c.3454G>A	ENSP00000513457.1:p.Val1152Ile
ENST00000697839.1:n.4401G>A
ENST00000697840.1:c.3625G>A	ENSP00000513458.1:p.Val1209Ile
ENST00000697841.1:n.4500G>A
ENST00000697842.1:n.3844G>A
ENST00000375394.7:c.3589G>A MANE Select	ENSP00000364543.2:p.Val1197Ile
ENST00000375394.6:c.3589G>A	ENSP00000364543.2:p.Val1197Ile
ENST00000465703.5:n.4319G>A
ENST00000470453.1:n.431G>A
ENST00000471818.1:n.518G>A
ENST00000474839.5:c.*2961G>A	ENSP00000420470.1:n.*2961G>A
ENST00000483553.5:c.1119G>A
ENST00000491994.1:c.678G>A
NM_006929.4:c.3589G>A	NP_008860.4:p.Val1197Ile
XR_926301.3:n.3605G>A
NM_006929.5:c.3589G>A MANE Select	NP_008860.4:p.Val1197Ile