Canonical Allele Identifier: CA363490105

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937157T>G (hg19) ; chr6:g.31969380T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969380T>G , CM000668.2:g.31969380T>G	GRCh38
NC_000006.11:g.31937157T>G , CM000668.1:g.31937157T>G	GRCh37
NC_000006.10:g.32045136T>G	NCBI36
NG_032652.1:g.15577T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2454T>G	ENSP00000419905.1:n.*2454T>G
ENST00000483553.6:c.*467T>G	ENSP00000420332.2:n.*467T>G
ENST00000485349.6:n.3976T>G
ENST00000491994.2:c.3500T>G	ENSP00000417586.2:p.Phe1167Cys
ENST00000494058.6:n.3802T>G
ENST00000697831.1:c.3431T>G	ENSP00000513453.1:p.Phe1144Cys
ENST00000697832.1:n.3653T>G
ENST00000697833.1:c.*448T>G	ENSP00000513454.1:n.*448T>G
ENST00000697834.1:n.4124T>G
ENST00000697835.1:c.*3018T>G	ENSP00000513455.1:n.*3018T>G
ENST00000697836.1:n.3831T>G
ENST00000697837.1:c.*616T>G	ENSP00000513456.1:n.*616T>G
ENST00000697838.1:c.3365T>G	ENSP00000513457.1:p.Phe1122Cys
ENST00000697839.1:n.4218T>G
ENST00000697840.1:c.3536T>G	ENSP00000513458.1:p.Phe1179Cys
ENST00000697841.1:n.4317T>G
ENST00000697842.1:n.3755T>G
ENST00000375394.7:c.3500T>G MANE Select	ENSP00000364543.2:p.Phe1167Cys
ENST00000375394.6:c.3500T>G	ENSP00000364543.2:p.Phe1167Cys
ENST00000465703.5:n.4136T>G
ENST00000470453.1:n.382+64T>G
ENST00000471818.1:n.429T>G
ENST00000474839.5:c.*2872T>G	ENSP00000420470.1:n.*2872T>G
ENST00000483553.5:c.936T>G
ENST00000485349.5:n.706T>G
ENST00000491994.1:c.495T>G
NM_006929.4:c.3500T>G	NP_008860.4:p.Phe1167Cys
XR_001743586.2:n.3599T>G
XR_926301.3:n.3516T>G
NM_006929.5:c.3500T>G MANE Select	NP_008860.4:p.Phe1167Cys