Canonical Allele Identifier: CA363489985

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937141G>T (hg19) ; chr6:g.31969364G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969364G>T , CM000668.2:g.31969364G>T	GRCh38
NC_000006.11:g.31937141G>T , CM000668.1:g.31937141G>T	GRCh37
NC_000006.10:g.32045120G>T	NCBI36
NG_032652.1:g.15561G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2438G>T	ENSP00000419905.1:n.*2438G>T
ENST00000483553.6:c.*451G>T	ENSP00000420332.2:n.*451G>T
ENST00000485349.6:n.3960G>T
ENST00000491994.2:c.3484G>T	ENSP00000417586.2:p.Val1162Leu
ENST00000494058.6:n.3786G>T
ENST00000697831.1:c.3415G>T	ENSP00000513453.1:p.Val1139Leu
ENST00000697832.1:n.3637G>T
ENST00000697833.1:c.*432G>T	ENSP00000513454.1:n.*432G>T
ENST00000697834.1:n.4108G>T
ENST00000697835.1:c.*3002G>T	ENSP00000513455.1:n.*3002G>T
ENST00000697836.1:n.3815G>T
ENST00000697837.1:c.*600G>T	ENSP00000513456.1:n.*600G>T
ENST00000697838.1:c.3349G>T	ENSP00000513457.1:p.Val1117Leu
ENST00000697839.1:n.4202G>T
ENST00000697840.1:c.3520G>T	ENSP00000513458.1:p.Val1174Leu
ENST00000697841.1:n.4301G>T
ENST00000697842.1:n.3739G>T
ENST00000375394.7:c.3484G>T MANE Select	ENSP00000364543.2:p.Val1162Leu
ENST00000375394.6:c.3484G>T	ENSP00000364543.2:p.Val1162Leu
ENST00000465703.5:n.4120G>T
ENST00000470453.1:n.382+48G>T
ENST00000471818.1:n.413G>T
ENST00000474839.5:c.*2856G>T	ENSP00000420470.1:n.*2856G>T
ENST00000483553.5:c.920G>T
ENST00000485349.5:n.690G>T
ENST00000491994.1:c.479G>T
NM_006929.4:c.3484G>T	NP_008860.4:p.Val1162Leu
XR_001743586.2:n.3583G>T
XR_926301.3:n.3500G>T
NM_006929.5:c.3484G>T MANE Select	NP_008860.4:p.Val1162Leu