Canonical Allele Identifier: CA363491865

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937407A>G (hg19) ; chr6:g.31969630A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969630A>G , CM000668.2:g.31969630A>G	GRCh38
NC_000006.11:g.31937407A>G , CM000668.1:g.31937407A>G	GRCh37
NC_000006.10:g.32045386A>G	NCBI36
NG_032652.1:g.15827A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2704A>G	ENSP00000419905.1:n.*2704A>G
ENST00000485349.6:n.4132A>G
ENST00000491994.2:c.*198A>G	ENSP00000417586.2:n.*198A>G
ENST00000494058.6:n.3958A>G
ENST00000697831.1:c.3587A>G	ENSP00000513453.1:p.Glu1196Gly
ENST00000697832.1:n.3809A>G
ENST00000697834.1:n.4374A>G
ENST00000697835.1:c.*3174A>G	ENSP00000513455.1:n.*3174A>G
ENST00000697836.1:n.4010A>G
ENST00000697837.1:c.*772A>G	ENSP00000513456.1:n.*772A>G
ENST00000697838.1:c.3521A>G	ENSP00000513457.1:p.Glu1174Gly
ENST00000697839.1:n.4468A>G
ENST00000697840.1:c.3692A>G	ENSP00000513458.1:p.Glu1231Gly
ENST00000697841.1:n.4567A>G
ENST00000697842.1:n.3911A>G
ENST00000375394.7:c.3656A>G MANE Select	ENSP00000364543.2:p.Glu1219Gly
ENST00000375394.6:c.3656A>G	ENSP00000364543.2:p.Glu1219Gly
ENST00000465703.5:n.4386A>G
ENST00000471818.1:n.585A>G
ENST00000474839.5:c.*3028A>G	ENSP00000420470.1:n.*3028A>G
ENST00000483553.5:c.1186A>G
ENST00000491994.1:c.745A>G
NM_006929.4:c.3656A>G	NP_008860.4:p.Glu1219Gly
XR_926301.3:n.3672A>G
NM_006929.5:c.3656A>G MANE Select	NP_008860.4:p.Glu1219Gly