Canonical Allele Identifier: CA3730067

Gene: SKIC2

Linked Data

• dbSNP Id: rs746698775
• ExAC: 6:31937131 G / A
• gnomAD v2: 6-31937131-G-A
• gnomAD v4: 6-31969354-G-A
• MyVariant Identifiers: chr6:g.31937131G>A (hg19) ; chr6:g.31969354G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969354G>A , CM000668.2:g.31969354G>A	GRCh38
NC_000006.11:g.31937131G>A , CM000668.1:g.31937131G>A	GRCh37
NC_000006.10:g.32045110G>A	NCBI36
NG_032652.1:g.15551G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2428G>A	ENSP00000419905.1:n.*2428G>A
ENST00000483553.6:c.*441G>A	ENSP00000420332.2:n.*441G>A
ENST00000485349.6:n.3950G>A
ENST00000491994.2:c.3474G>A	ENSP00000417586.2:p.Val1158=
ENST00000494058.6:n.3776G>A
ENST00000697831.1:c.3405G>A	ENSP00000513453.1:p.Val1135=
ENST00000697832.1:n.3627G>A
ENST00000697833.1:c.*422G>A	ENSP00000513454.1:n.*422G>A
ENST00000697834.1:n.4098G>A
ENST00000697835.1:c.*2992G>A	ENSP00000513455.1:n.*2992G>A
ENST00000697836.1:n.3805G>A
ENST00000697837.1:c.*590G>A	ENSP00000513456.1:n.*590G>A
ENST00000697838.1:c.3339G>A	ENSP00000513457.1:p.Val1113=
ENST00000697839.1:n.4192G>A
ENST00000697840.1:c.3510G>A	ENSP00000513458.1:p.Val1170=
ENST00000697841.1:n.4291G>A
ENST00000697842.1:n.3729G>A
ENST00000375394.7:c.3474G>A MANE Select	ENSP00000364543.2:p.Val1158=
ENST00000375394.6:c.3474G>A	ENSP00000364543.2:p.Val1158=
ENST00000465703.5:n.4110G>A
ENST00000470453.1:n.382+38G>A
ENST00000471818.1:n.403G>A
ENST00000474839.5:c.*2846G>A	ENSP00000420470.1:n.*2846G>A
ENST00000483553.5:c.910G>A
ENST00000485349.5:n.680G>A
ENST00000491994.1:c.469G>A
NM_006929.4:c.3474G>A	NP_008860.4:p.Val1158=
XR_001743586.2:n.3573G>A
XR_926301.3:n.3490G>A
NM_006929.5:c.3474G>A MANE Select	NP_008860.4:p.Val1158=