Canonical Allele Identifier: CA3730074

Gene: SKIC2

Linked Data

• dbSNP Id: rs764549241
• ExAC: 6:31937165 G / A
• gnomAD v2: 6-31937165-G-A
• gnomAD v4: 6-31969388-G-A
• MyVariant Identifiers: chr6:g.31937165G>A (hg19) ; chr6:g.31969388G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969388G>A , CM000668.2:g.31969388G>A	GRCh38
NC_000006.11:g.31937165G>A , CM000668.1:g.31937165G>A	GRCh37
NC_000006.10:g.32045144G>A	NCBI36
NG_032652.1:g.15585G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2462G>A	ENSP00000419905.1:n.*2462G>A
ENST00000483553.6:c.*475G>A	ENSP00000420332.2:n.*475G>A
ENST00000485349.6:n.3984G>A
ENST00000491994.2:c.3508G>A	ENSP00000417586.2:p.Val1170Ile
ENST00000494058.6:n.3810G>A
ENST00000697831.1:c.3439G>A	ENSP00000513453.1:p.Val1147Ile
ENST00000697832.1:n.3661G>A
ENST00000697833.1:c.*456G>A	ENSP00000513454.1:n.*456G>A
ENST00000697834.1:n.4132G>A
ENST00000697835.1:c.*3026G>A	ENSP00000513455.1:n.*3026G>A
ENST00000697836.1:n.3839G>A
ENST00000697837.1:c.*624G>A	ENSP00000513456.1:n.*624G>A
ENST00000697838.1:c.3373G>A	ENSP00000513457.1:p.Val1125Ile
ENST00000697839.1:n.4226G>A
ENST00000697840.1:c.3544G>A	ENSP00000513458.1:p.Val1182Ile
ENST00000697841.1:n.4325G>A
ENST00000697842.1:n.3763G>A
ENST00000375394.7:c.3508G>A MANE Select	ENSP00000364543.2:p.Val1170Ile
ENST00000375394.6:c.3508G>A	ENSP00000364543.2:p.Val1170Ile
ENST00000465703.5:n.4144G>A
ENST00000470453.1:n.382+72G>A
ENST00000471818.1:n.437G>A
ENST00000474839.5:c.*2880G>A	ENSP00000420470.1:n.*2880G>A
ENST00000483553.5:c.944G>A
ENST00000485349.5:n.714G>A
ENST00000491994.1:c.503G>A
NM_006929.4:c.3508G>A	NP_008860.4:p.Val1170Ile
XR_001743586.2:n.3607G>A
XR_926301.3:n.3524G>A
NM_006929.5:c.3508G>A MANE Select	NP_008860.4:p.Val1170Ile