Canonical Allele Identifier: CA363489983

Gene: SKIC2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2438G>A	ENSP00000419905.1:n.*2438G>A
ENST00000483553.6:c.*451G>A	ENSP00000420332.2:n.*451G>A
ENST00000485349.6:n.3960G>A
ENST00000491994.2:c.3484G>A	ENSP00000417586.2:p.Val1162Met
ENST00000494058.6:n.3786G>A
ENST00000697831.1:c.3415G>A	ENSP00000513453.1:p.Val1139Met
ENST00000697832.1:n.3637G>A
ENST00000697833.1:c.*432G>A	ENSP00000513454.1:n.*432G>A
ENST00000697834.1:n.4108G>A
ENST00000697835.1:c.*3002G>A	ENSP00000513455.1:n.*3002G>A
ENST00000697836.1:n.3815G>A
ENST00000697837.1:c.*600G>A	ENSP00000513456.1:n.*600G>A
ENST00000697838.1:c.3349G>A	ENSP00000513457.1:p.Val1117Met
ENST00000697839.1:n.4202G>A
ENST00000697840.1:c.3520G>A	ENSP00000513458.1:p.Val1174Met
ENST00000697841.1:n.4301G>A
ENST00000697842.1:n.3739G>A
ENST00000375394.7:c.3484G>A MANE Select	ENSP00000364543.2:p.Val1162Met
ENST00000375394.6:c.3484G>A	ENSP00000364543.2:p.Val1162Met
ENST00000465703.5:n.4120G>A
ENST00000470453.1:n.382+48G>A
ENST00000471818.1:n.413G>A
ENST00000474839.5:c.*2856G>A	ENSP00000420470.1:n.*2856G>A
ENST00000483553.5:c.920G>A
ENST00000485349.5:n.690G>A
ENST00000491994.1:c.479G>A
NM_006929.4:c.3484G>A	NP_008860.4:p.Val1162Met
XR_001743586.2:n.3583G>A
XR_926301.3:n.3500G>A
NM_006929.5:c.3484G>A MANE Select	NP_008860.4:p.Val1162Met