Canonical Allele Identifier: CA363491675

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937388G>A (hg19) ; chr6:g.31969611G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969611G>A , CM000668.2:g.31969611G>A	GRCh38
NC_000006.11:g.31937388G>A , CM000668.1:g.31937388G>A	GRCh37
NC_000006.10:g.32045367G>A	NCBI36
NG_032652.1:g.15808G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2685G>A	ENSP00000419905.1:n.*2685G>A
ENST00000485349.6:n.4113G>A
ENST00000491994.2:c.*179G>A	ENSP00000417586.2:n.*179G>A
ENST00000494058.6:n.3939G>A
ENST00000697831.1:c.3568G>A	ENSP00000513453.1:p.Ala1190Thr
ENST00000697832.1:n.3790G>A
ENST00000697834.1:n.4355G>A
ENST00000697835.1:c.*3155G>A	ENSP00000513455.1:n.*3155G>A
ENST00000697836.1:n.3991G>A
ENST00000697837.1:c.*753G>A	ENSP00000513456.1:n.*753G>A
ENST00000697838.1:c.3502G>A	ENSP00000513457.1:p.Ala1168Thr
ENST00000697839.1:n.4449G>A
ENST00000697840.1:c.3673G>A	ENSP00000513458.1:p.Ala1225Thr
ENST00000697841.1:n.4548G>A
ENST00000697842.1:n.3892G>A
ENST00000375394.7:c.3637G>A MANE Select	ENSP00000364543.2:p.Ala1213Thr
ENST00000375394.6:c.3637G>A	ENSP00000364543.2:p.Ala1213Thr
ENST00000465703.5:n.4367G>A
ENST00000471818.1:n.566G>A
ENST00000474839.5:c.*3009G>A	ENSP00000420470.1:n.*3009G>A
ENST00000483553.5:c.1167G>A
ENST00000491994.1:c.726G>A
NM_006929.4:c.3637G>A	NP_008860.4:p.Ala1213Thr
XR_926301.3:n.3653G>A
NM_006929.5:c.3637G>A MANE Select	NP_008860.4:p.Ala1213Thr