Canonical Allele Identifier: CA363491102

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937332G>A (hg19) ; chr6:g.31969555G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969555G>A , CM000668.2:g.31969555G>A	GRCh38
NC_000006.11:g.31937332G>A , CM000668.1:g.31937332G>A	GRCh37
NC_000006.10:g.32045311G>A	NCBI36
NG_032652.1:g.15752G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2629G>A	ENSP00000419905.1:n.*2629G>A
ENST00000485349.6:n.4057G>A
ENST00000491994.2:c.*123G>A	ENSP00000417586.2:n.*123G>A
ENST00000494058.6:n.3883G>A
ENST00000697831.1:c.3512G>A	ENSP00000513453.1:p.Gly1171Asp
ENST00000697832.1:n.3734G>A
ENST00000697833.1:c.*529G>A	ENSP00000513454.1:n.*529G>A
ENST00000697834.1:n.4299G>A
ENST00000697835.1:c.*3099G>A	ENSP00000513455.1:n.*3099G>A
ENST00000697836.1:n.3935G>A
ENST00000697837.1:c.*697G>A	ENSP00000513456.1:n.*697G>A
ENST00000697838.1:c.3446G>A	ENSP00000513457.1:p.Gly1149Asp
ENST00000697839.1:n.4393G>A
ENST00000697840.1:c.3617G>A	ENSP00000513458.1:p.Gly1206Asp
ENST00000697841.1:n.4492G>A
ENST00000697842.1:n.3836G>A
ENST00000375394.7:c.3581G>A MANE Select	ENSP00000364543.2:p.Gly1194Asp
ENST00000375394.6:c.3581G>A	ENSP00000364543.2:p.Gly1194Asp
ENST00000465703.5:n.4311G>A
ENST00000470453.1:n.423G>A
ENST00000471818.1:n.510G>A
ENST00000474839.5:c.*2953G>A	ENSP00000420470.1:n.*2953G>A
ENST00000483553.5:c.1111G>A
ENST00000491994.1:c.670G>A
NM_006929.4:c.3581G>A	NP_008860.4:p.Gly1194Asp
XR_926301.3:n.3597G>A
NM_006929.5:c.3581G>A MANE Select	NP_008860.4:p.Gly1194Asp