Canonical Allele Identifier: CA449813867

Gene: SKIC2

Linked Data

• ClinVar Variation Id: 2823499
• ClinVar RCV Id: RCV003706712
• MyVariant Identifiers: chr6:g.31937146G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969369G>A , CM000668.2:g.31969369G>A	GRCh38
NC_000006.11:g.31937146G>A , CM000668.1:g.31937146G>A	GRCh37
NC_000006.10:g.32045125G>A	NCBI36
NG_032652.1:g.15566G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2443G>A	ENSP00000419905.1:n.*2443G>A
ENST00000483553.6:c.*456G>A	ENSP00000420332.2:n.*456G>A
ENST00000485349.6:n.3965G>A
ENST00000491994.2:c.3489G>A	ENSP00000417586.2:p.Gly1163=
ENST00000494058.6:n.3791G>A
ENST00000697831.1:c.3420G>A	ENSP00000513453.1:p.Gly1140=
ENST00000697832.1:n.3642G>A
ENST00000697833.1:c.*437G>A	ENSP00000513454.1:n.*437G>A
ENST00000697834.1:n.4113G>A
ENST00000697835.1:c.*3007G>A	ENSP00000513455.1:n.*3007G>A
ENST00000697836.1:n.3820G>A
ENST00000697837.1:c.*605G>A	ENSP00000513456.1:n.*605G>A
ENST00000697838.1:c.3354G>A	ENSP00000513457.1:p.Gly1118=
ENST00000697839.1:n.4207G>A
ENST00000697840.1:c.3525G>A	ENSP00000513458.1:p.Gly1175=
ENST00000697841.1:n.4306G>A
ENST00000697842.1:n.3744G>A
ENST00000375394.7:c.3489G>A MANE Select	ENSP00000364543.2:p.Gly1163=
ENST00000375394.6:c.3489G>A	ENSP00000364543.2:p.Gly1163=
ENST00000465703.5:n.4125G>A
ENST00000470453.1:n.382+53G>A
ENST00000471818.1:n.418G>A
ENST00000474839.5:c.*2861G>A	ENSP00000420470.1:n.*2861G>A
ENST00000483553.5:c.925G>A
ENST00000485349.5:n.695G>A
ENST00000491994.1:c.484G>A
NM_006929.4:c.3489G>A	NP_008860.4:p.Gly1163=
XR_001743586.2:n.3588G>A
XR_926301.3:n.3505G>A
NM_006929.5:c.3489G>A MANE Select	NP_008860.4:p.Gly1163=