Canonical Allele Identifier: CA363492513

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937472G>T (hg19) ; chr6:g.31969695G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969695G>T , CM000668.2:g.31969695G>T	GRCh38
NC_000006.11:g.31937472G>T , CM000668.1:g.31937472G>T	GRCh37
NC_000006.10:g.32045451G>T	NCBI36
NG_032652.1:g.15892G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2769G>T	ENSP00000419905.1:n.*2769G>T
ENST00000485349.6:n.4197G>T
ENST00000491994.2:c.*263G>T	ENSP00000417586.2:n.*263G>T
ENST00000494058.6:n.4023G>T
ENST00000697831.1:c.3652G>T	ENSP00000513453.1:p.Ala1218Ser
ENST00000697832.1:n.3874G>T
ENST00000697834.1:n.4439G>T
ENST00000697835.1:c.*3239G>T	ENSP00000513455.1:n.*3239G>T
ENST00000697836.1:n.4075G>T
ENST00000697837.1:c.*837G>T	ENSP00000513456.1:n.*837G>T
ENST00000697838.1:c.3586G>T	ENSP00000513457.1:p.Ala1196Ser
ENST00000697839.1:n.4533G>T
ENST00000697840.1:c.3757G>T	ENSP00000513458.1:p.Ala1253Ser
ENST00000697841.1:n.4632G>T
ENST00000697842.1:n.3976G>T
ENST00000375394.7:c.3721G>T MANE Select	ENSP00000364543.2:p.Ala1241Ser
ENST00000375394.6:c.3721G>T	ENSP00000364543.2:p.Ala1241Ser
ENST00000465703.5:n.4451G>T
ENST00000471818.1:n.650G>T
ENST00000474839.5:c.*3093G>T	ENSP00000420470.1:n.*3093G>T
ENST00000483553.5:c.1251G>T
ENST00000491994.1:c.810G>T
NM_006929.4:c.3721G>T	NP_008860.4:p.Ala1241Ser
XR_926301.3:n.3737G>T
NM_006929.5:c.3721G>T MANE Select	NP_008860.4:p.Ala1241Ser