Canonical Allele Identifier: CA363489903

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937133A>T (hg19) ; chr6:g.31969356A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969356A>T , CM000668.2:g.31969356A>T	GRCh38
NC_000006.11:g.31937133A>T , CM000668.1:g.31937133A>T	GRCh37
NC_000006.10:g.32045112A>T	NCBI36
NG_032652.1:g.15553A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2430A>T	ENSP00000419905.1:n.*2430A>T
ENST00000483553.6:c.*443A>T	ENSP00000420332.2:n.*443A>T
ENST00000485349.6:n.3952A>T
ENST00000491994.2:c.3476A>T	ENSP00000417586.2:p.Glu1159Val
ENST00000494058.6:n.3778A>T
ENST00000697831.1:c.3407A>T	ENSP00000513453.1:p.Glu1136Val
ENST00000697832.1:n.3629A>T
ENST00000697833.1:c.*424A>T	ENSP00000513454.1:n.*424A>T
ENST00000697834.1:n.4100A>T
ENST00000697835.1:c.*2994A>T	ENSP00000513455.1:n.*2994A>T
ENST00000697836.1:n.3807A>T
ENST00000697837.1:c.*592A>T	ENSP00000513456.1:n.*592A>T
ENST00000697838.1:c.3341A>T	ENSP00000513457.1:p.Glu1114Val
ENST00000697839.1:n.4194A>T
ENST00000697840.1:c.3512A>T	ENSP00000513458.1:p.Glu1171Val
ENST00000697841.1:n.4293A>T
ENST00000697842.1:n.3731A>T
ENST00000375394.7:c.3476A>T MANE Select	ENSP00000364543.2:p.Glu1159Val
ENST00000375394.6:c.3476A>T	ENSP00000364543.2:p.Glu1159Val
ENST00000465703.5:n.4112A>T
ENST00000470453.1:n.382+40A>T
ENST00000471818.1:n.405A>T
ENST00000474839.5:c.*2848A>T	ENSP00000420470.1:n.*2848A>T
ENST00000483553.5:c.912A>T
ENST00000485349.5:n.682A>T
ENST00000491994.1:c.471A>T
NM_006929.4:c.3476A>T	NP_008860.4:p.Glu1159Val
XR_001743586.2:n.3575A>T
XR_926301.3:n.3492A>T
NM_006929.5:c.3476A>T MANE Select	NP_008860.4:p.Glu1159Val