Canonical Allele Identifier: CA363490250

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937174G>A (hg19) ; chr6:g.31969397G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969397G>A , CM000668.2:g.31969397G>A	GRCh38
NC_000006.11:g.31937174G>A , CM000668.1:g.31937174G>A	GRCh37
NC_000006.10:g.32045153G>A	NCBI36
NG_032652.1:g.15594G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2471G>A	ENSP00000419905.1:n.*2471G>A
ENST00000483553.6:c.*484G>A	ENSP00000420332.2:n.*484G>A
ENST00000485349.6:n.3993G>A
ENST00000491994.2:c.3517G>A	ENSP00000417586.2:p.Val1173Ile
ENST00000494058.6:n.3819G>A
ENST00000697831.1:c.3448G>A	ENSP00000513453.1:p.Val1150Ile
ENST00000697832.1:n.3670G>A
ENST00000697833.1:c.*465G>A	ENSP00000513454.1:n.*465G>A
ENST00000697834.1:n.4141G>A
ENST00000697835.1:c.*3035G>A	ENSP00000513455.1:n.*3035G>A
ENST00000697836.1:n.3848G>A
ENST00000697837.1:c.*633G>A	ENSP00000513456.1:n.*633G>A
ENST00000697838.1:c.3382G>A	ENSP00000513457.1:p.Val1128Ile
ENST00000697839.1:n.4235G>A
ENST00000697840.1:c.3553G>A	ENSP00000513458.1:p.Val1185Ile
ENST00000697841.1:n.4334G>A
ENST00000697842.1:n.3772G>A
ENST00000375394.7:c.3517G>A MANE Select	ENSP00000364543.2:p.Val1173Ile
ENST00000375394.6:c.3517G>A	ENSP00000364543.2:p.Val1173Ile
ENST00000465703.5:n.4153G>A
ENST00000470453.1:n.382+81G>A
ENST00000471818.1:n.446G>A
ENST00000474839.5:c.*2889G>A	ENSP00000420470.1:n.*2889G>A
ENST00000483553.5:c.953G>A
ENST00000485349.5:n.723G>A
ENST00000491994.1:c.512G>A
NM_006929.4:c.3517G>A	NP_008860.4:p.Val1173Ile
XR_001743586.2:n.3616G>A
XR_926301.3:n.3533G>A
NM_006929.5:c.3517G>A MANE Select	NP_008860.4:p.Val1173Ile