Canonical Allele Identifier: CA363491693

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937389C>T (hg19) ; chr6:g.31969612C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969612C>T , CM000668.2:g.31969612C>T	GRCh38
NC_000006.11:g.31937389C>T , CM000668.1:g.31937389C>T	GRCh37
NC_000006.10:g.32045368C>T	NCBI36
NG_032652.1:g.15809C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2686C>T	ENSP00000419905.1:n.*2686C>T
ENST00000485349.6:n.4114C>T
ENST00000491994.2:c.*180C>T	ENSP00000417586.2:n.*180C>T
ENST00000494058.6:n.3940C>T
ENST00000697831.1:c.3569C>T	ENSP00000513453.1:p.Ala1190Val
ENST00000697832.1:n.3791C>T
ENST00000697834.1:n.4356C>T
ENST00000697835.1:c.*3156C>T	ENSP00000513455.1:n.*3156C>T
ENST00000697836.1:n.3992C>T
ENST00000697837.1:c.*754C>T	ENSP00000513456.1:n.*754C>T
ENST00000697838.1:c.3503C>T	ENSP00000513457.1:p.Ala1168Val
ENST00000697839.1:n.4450C>T
ENST00000697840.1:c.3674C>T	ENSP00000513458.1:p.Ala1225Val
ENST00000697841.1:n.4549C>T
ENST00000697842.1:n.3893C>T
ENST00000375394.7:c.3638C>T MANE Select	ENSP00000364543.2:p.Ala1213Val
ENST00000375394.6:c.3638C>T	ENSP00000364543.2:p.Ala1213Val
ENST00000465703.5:n.4368C>T
ENST00000471818.1:n.567C>T
ENST00000474839.5:c.*3010C>T	ENSP00000420470.1:n.*3010C>T
ENST00000483553.5:c.1168C>T
ENST00000491994.1:c.727C>T
NM_006929.4:c.3638C>T	NP_008860.4:p.Ala1213Val
XR_926301.3:n.3654C>T
NM_006929.5:c.3638C>T MANE Select	NP_008860.4:p.Ala1213Val