Canonical Allele Identifier: CA363490253

Gene: SKIC2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2471G>T	ENSP00000419905.1:n.*2471G>T
ENST00000483553.6:c.*484G>T	ENSP00000420332.2:n.*484G>T
ENST00000485349.6:n.3993G>T
ENST00000491994.2:c.3517G>T	ENSP00000417586.2:p.Val1173Leu
ENST00000494058.6:n.3819G>T
ENST00000697831.1:c.3448G>T	ENSP00000513453.1:p.Val1150Leu
ENST00000697832.1:n.3670G>T
ENST00000697833.1:c.*465G>T	ENSP00000513454.1:n.*465G>T
ENST00000697834.1:n.4141G>T
ENST00000697835.1:c.*3035G>T	ENSP00000513455.1:n.*3035G>T
ENST00000697836.1:n.3848G>T
ENST00000697837.1:c.*633G>T	ENSP00000513456.1:n.*633G>T
ENST00000697838.1:c.3382G>T	ENSP00000513457.1:p.Val1128Leu
ENST00000697839.1:n.4235G>T
ENST00000697840.1:c.3553G>T	ENSP00000513458.1:p.Val1185Leu
ENST00000697841.1:n.4334G>T
ENST00000697842.1:n.3772G>T
ENST00000375394.7:c.3517G>T MANE Select	ENSP00000364543.2:p.Val1173Leu
ENST00000375394.6:c.3517G>T	ENSP00000364543.2:p.Val1173Leu
ENST00000465703.5:n.4153G>T
ENST00000470453.1:n.382+81G>T
ENST00000471818.1:n.446G>T
ENST00000474839.5:c.*2889G>T	ENSP00000420470.1:n.*2889G>T
ENST00000483553.5:c.953G>T
ENST00000485349.5:n.723G>T
ENST00000491994.1:c.512G>T
NM_006929.4:c.3517G>T	NP_008860.4:p.Val1173Leu
XR_001743586.2:n.3616G>T
XR_926301.3:n.3533G>T
NM_006929.5:c.3517G>T MANE Select	NP_008860.4:p.Val1173Leu