Canonical Allele Identifier: CA363492172

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937434C>T (hg19) ; chr6:g.31969657C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969657C>T , CM000668.2:g.31969657C>T	GRCh38
NC_000006.11:g.31937434C>T , CM000668.1:g.31937434C>T	GRCh37
NC_000006.10:g.32045413C>T	NCBI36
NG_032652.1:g.15854C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2731C>T	ENSP00000419905.1:n.*2731C>T
ENST00000485349.6:n.4159C>T
ENST00000491994.2:c.*225C>T	ENSP00000417586.2:n.*225C>T
ENST00000494058.6:n.3985C>T
ENST00000697831.1:c.3614C>T	ENSP00000513453.1:p.Thr1205Ile
ENST00000697832.1:n.3836C>T
ENST00000697834.1:n.4401C>T
ENST00000697835.1:c.*3201C>T	ENSP00000513455.1:n.*3201C>T
ENST00000697836.1:n.4037C>T
ENST00000697837.1:c.*799C>T	ENSP00000513456.1:n.*799C>T
ENST00000697838.1:c.3548C>T	ENSP00000513457.1:p.Thr1183Ile
ENST00000697839.1:n.4495C>T
ENST00000697840.1:c.3719C>T	ENSP00000513458.1:p.Thr1240Ile
ENST00000697841.1:n.4594C>T
ENST00000697842.1:n.3938C>T
ENST00000375394.7:c.3683C>T MANE Select	ENSP00000364543.2:p.Thr1228Ile
ENST00000375394.6:c.3683C>T	ENSP00000364543.2:p.Thr1228Ile
ENST00000465703.5:n.4413C>T
ENST00000471818.1:n.612C>T
ENST00000474839.5:c.*3055C>T	ENSP00000420470.1:n.*3055C>T
ENST00000483553.5:c.1213C>T
ENST00000491994.1:c.772C>T
NM_006929.4:c.3683C>T	NP_008860.4:p.Thr1228Ile
XR_926301.3:n.3699C>T
NM_006929.5:c.3683C>T MANE Select	NP_008860.4:p.Thr1228Ile