Canonical Allele Identifier: CA363491047

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937328G>T (hg19) ; chr6:g.31969551G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969551G>T , CM000668.2:g.31969551G>T	GRCh38
NC_000006.11:g.31937328G>T , CM000668.1:g.31937328G>T	GRCh37
NC_000006.10:g.32045307G>T	NCBI36
NG_032652.1:g.15748G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2625G>T	ENSP00000419905.1:n.*2625G>T
ENST00000485349.6:n.4053G>T
ENST00000491994.2:c.*119G>T	ENSP00000417586.2:n.*119G>T
ENST00000494058.6:n.3879G>T
ENST00000697831.1:c.3508G>T	ENSP00000513453.1:p.Glu1170Ter
ENST00000697832.1:n.3730G>T
ENST00000697833.1:c.*525G>T	ENSP00000513454.1:n.*525G>T
ENST00000697834.1:n.4295G>T
ENST00000697835.1:c.*3095G>T	ENSP00000513455.1:n.*3095G>T
ENST00000697836.1:n.3931G>T
ENST00000697837.1:c.*693G>T	ENSP00000513456.1:n.*693G>T
ENST00000697838.1:c.3442G>T	ENSP00000513457.1:p.Glu1148Ter
ENST00000697839.1:n.4389G>T
ENST00000697840.1:c.3613G>T	ENSP00000513458.1:p.Glu1205Ter
ENST00000697841.1:n.4488G>T
ENST00000697842.1:n.3832G>T
ENST00000375394.7:c.3577G>T MANE Select	ENSP00000364543.2:p.Glu1193Ter
ENST00000375394.6:c.3577G>T	ENSP00000364543.2:p.Glu1193Ter
ENST00000465703.5:n.4307G>T
ENST00000470453.1:n.419G>T
ENST00000471818.1:n.506G>T
ENST00000474839.5:c.*2949G>T	ENSP00000420470.1:n.*2949G>T
ENST00000483553.5:c.1107G>T
ENST00000491994.1:c.666G>T
NM_006929.4:c.3577G>T	NP_008860.4:p.Glu1193Ter
XR_926301.3:n.3593G>T
NM_006929.5:c.3577G>T MANE Select	NP_008860.4:p.Glu1193Ter