Canonical Allele Identifier: CA3730119

Gene: SKIC2

Linked Data

• ClinVar Variation Id: 356355
• ClinVar RCV Id: RCV000386563
• dbSNP Id: rs774251531
• ExAC: 6:31937470 C / T
• gnomAD v2: 6-31937470-C-T
• gnomAD v4: 6-31969693-C-T
• MyVariant Identifiers: chr6:g.31937470C>T (hg19) ; chr6:g.31969693C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969693C>T , CM000668.2:g.31969693C>T	GRCh38
NC_000006.11:g.31937470C>T , CM000668.1:g.31937470C>T	GRCh37
NC_000006.10:g.32045449C>T	NCBI36
NG_032652.1:g.15890C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461073.6:c.*2767C>T	ENSP00000419905.1:n.*2767C>T
ENST00000485349.6:n.4195C>T
ENST00000491994.2:c.*261C>T	ENSP00000417586.2:n.*261C>T
ENST00000494058.6:n.4021C>T
ENST00000697831.1:c.3650C>T	ENSP00000513453.1:p.Ala1217Val
ENST00000697832.1:n.3872C>T
ENST00000697834.1:n.4437C>T
ENST00000697835.1:c.*3237C>T	ENSP00000513455.1:n.*3237C>T
ENST00000697836.1:n.4073C>T
ENST00000697837.1:c.*835C>T	ENSP00000513456.1:n.*835C>T
ENST00000697838.1:c.3584C>T	ENSP00000513457.1:p.Ala1195Val
ENST00000697839.1:n.4531C>T
ENST00000697840.1:c.3755C>T	ENSP00000513458.1:p.Ala1252Val
ENST00000697841.1:n.4630C>T
ENST00000697842.1:n.3974C>T
ENST00000375394.7:c.3719C>T MANE Select	ENSP00000364543.2:p.Ala1240Val
ENST00000375394.6:c.3719C>T	ENSP00000364543.2:p.Ala1240Val
ENST00000465703.5:n.4449C>T
ENST00000471818.1:n.648C>T
ENST00000474839.5:c.*3091C>T	ENSP00000420470.1:n.*3091C>T
ENST00000483553.5:c.1249C>T
ENST00000491994.1:c.808C>T
NM_006929.4:c.3719C>T	NP_008860.4:p.Ala1240Val
XR_926301.3:n.3735C>T
NM_006929.5:c.3719C>T MANE Select	NP_008860.4:p.Ala1240Val