Canonical Allele Identifier: CA363491264

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937352C>T (hg19) ; chr6:g.31969575C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969575C>T , CM000668.2:g.31969575C>T	GRCh38
NC_000006.11:g.31937352C>T , CM000668.1:g.31937352C>T	GRCh37
NC_000006.10:g.32045331C>T	NCBI36
NG_032652.1:g.15772C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2649C>T	ENSP00000419905.1:n.*2649C>T
ENST00000485349.6:n.4077C>T
ENST00000491994.2:c.*143C>T	ENSP00000417586.2:n.*143C>T
ENST00000494058.6:n.3903C>T
ENST00000697831.1:c.3532C>T	ENSP00000513453.1:p.Gln1178Ter
ENST00000697832.1:n.3754C>T
ENST00000697833.1:c.*549C>T	ENSP00000513454.1:n.*549C>T
ENST00000697834.1:n.4319C>T
ENST00000697835.1:c.*3119C>T	ENSP00000513455.1:n.*3119C>T
ENST00000697836.1:n.3955C>T
ENST00000697837.1:c.*717C>T	ENSP00000513456.1:n.*717C>T
ENST00000697838.1:c.3466C>T	ENSP00000513457.1:p.Gln1156Ter
ENST00000697839.1:n.4413C>T
ENST00000697840.1:c.3637C>T	ENSP00000513458.1:p.Gln1213Ter
ENST00000697841.1:n.4512C>T
ENST00000697842.1:n.3856C>T
ENST00000375394.7:c.3601C>T MANE Select	ENSP00000364543.2:p.Gln1201Ter
ENST00000375394.6:c.3601C>T	ENSP00000364543.2:p.Gln1201Ter
ENST00000465703.5:n.4331C>T
ENST00000470453.1:n.443C>T
ENST00000471818.1:n.530C>T
ENST00000474839.5:c.*2973C>T	ENSP00000420470.1:n.*2973C>T
ENST00000483553.5:c.1131C>T
ENST00000491994.1:c.690C>T
NM_006929.4:c.3601C>T	NP_008860.4:p.Gln1201Ter
XR_926301.3:n.3617C>T
NM_006929.5:c.3601C>T MANE Select	NP_008860.4:p.Gln1201Ter