Canonical Allele Identifier: CA3730069

Gene: SKIC2

Linked Data

• ClinVar Variation Id: 2831854
• ClinVar RCV Id: RCV003686814
• dbSNP Id: rs776131939
• ExAC: 6:31937134 G / A
• gnomAD v2: 6-31937134-G-A
• gnomAD v3: 6-31969357-G-A
• gnomAD v4: 6-31969357-G-A
• MyVariant Identifiers: chr6:g.31937134G>A (hg19) ; chr6:g.31969357G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969357G>A , CM000668.2:g.31969357G>A	GRCh38
NC_000006.11:g.31937134G>A , CM000668.1:g.31937134G>A	GRCh37
NC_000006.10:g.32045113G>A	NCBI36
NG_032652.1:g.15554G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2431G>A	ENSP00000419905.1:n.*2431G>A
ENST00000483553.6:c.*444G>A	ENSP00000420332.2:n.*444G>A
ENST00000485349.6:n.3953G>A
ENST00000491994.2:c.3477G>A	ENSP00000417586.2:p.Glu1159=
ENST00000494058.6:n.3779G>A
ENST00000697831.1:c.3408G>A	ENSP00000513453.1:p.Glu1136=
ENST00000697832.1:n.3630G>A
ENST00000697833.1:c.*425G>A	ENSP00000513454.1:n.*425G>A
ENST00000697834.1:n.4101G>A
ENST00000697835.1:c.*2995G>A	ENSP00000513455.1:n.*2995G>A
ENST00000697836.1:n.3808G>A
ENST00000697837.1:c.*593G>A	ENSP00000513456.1:n.*593G>A
ENST00000697838.1:c.3342G>A	ENSP00000513457.1:p.Glu1114=
ENST00000697839.1:n.4195G>A
ENST00000697840.1:c.3513G>A	ENSP00000513458.1:p.Glu1171=
ENST00000697841.1:n.4294G>A
ENST00000697842.1:n.3732G>A
ENST00000375394.7:c.3477G>A MANE Select	ENSP00000364543.2:p.Glu1159=
ENST00000375394.6:c.3477G>A	ENSP00000364543.2:p.Glu1159=
ENST00000465703.5:n.4113G>A
ENST00000470453.1:n.382+41G>A
ENST00000471818.1:n.406G>A
ENST00000474839.5:c.*2849G>A	ENSP00000420470.1:n.*2849G>A
ENST00000483553.5:c.913G>A
ENST00000485349.5:n.683G>A
ENST00000491994.1:c.472G>A
NM_006929.4:c.3477G>A	NP_008860.4:p.Glu1159=
XR_001743586.2:n.3576G>A
XR_926301.3:n.3493G>A
NM_006929.5:c.3477G>A MANE Select	NP_008860.4:p.Glu1159=