Canonical Allele Identifier: CA363492535

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937475A>T (hg19) ; chr6:g.31969698A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969698A>T , CM000668.2:g.31969698A>T	GRCh38
NC_000006.11:g.31937475A>T , CM000668.1:g.31937475A>T	GRCh37
NC_000006.10:g.32045454A>T	NCBI36
NG_032652.1:g.15895A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2772A>T	ENSP00000419905.1:n.*2772A>T
ENST00000485349.6:n.4200A>T
ENST00000491994.2:c.*266A>T	ENSP00000417586.2:n.*266A>T
ENST00000494058.6:n.4026A>T
ENST00000697831.1:c.3655A>T	ENSP00000513453.1:p.Ser1219Cys
ENST00000697832.1:n.3877A>T
ENST00000697834.1:n.4442A>T
ENST00000697835.1:c.*3242A>T	ENSP00000513455.1:n.*3242A>T
ENST00000697837.1:c.*840A>T	ENSP00000513456.1:n.*840A>T
ENST00000697838.1:c.3589A>T	ENSP00000513457.1:p.Ser1197Cys
ENST00000697839.1:n.4536A>T
ENST00000697840.1:c.3760A>T	ENSP00000513458.1:p.Ser1254Cys
ENST00000697841.1:n.4635A>T
ENST00000697842.1:n.3979A>T
ENST00000375394.7:c.3724A>T MANE Select	ENSP00000364543.2:p.Ser1242Cys
ENST00000375394.6:c.3724A>T	ENSP00000364543.2:p.Ser1242Cys
ENST00000465703.5:n.4454A>T
ENST00000471818.1:n.653A>T
ENST00000474839.5:c.*3096A>T	ENSP00000420470.1:n.*3096A>T
ENST00000483553.5:c.1254A>T
ENST00000491994.1:c.813A>T
NM_006929.4:c.3724A>T	NP_008860.4:p.Ser1242Cys
XR_926301.3:n.3740A>T
NM_006929.5:c.3724A>T MANE Select	NP_008860.4:p.Ser1242Cys