Canonical Allele Identifier: CA2678078822

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969423-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969423G>T , CM000668.2:g.31969423G>T	GRCh38
NC_000006.11:g.31937200G>T , CM000668.1:g.31937200G>T	GRCh37
NC_000006.10:g.32045179G>T	NCBI36
NG_032652.1:g.15620G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2497G>T	ENSP00000419905.1:n.*2497G>T
ENST00000483553.6:c.*510G>T	ENSP00000420332.2:n.*510G>T
ENST00000485349.6:n.4016+3G>T
ENST00000491994.2:c.3543G>T	ENSP00000417586.2:p.Val1181=
ENST00000494058.6:n.3842+3G>T
ENST00000697831.1:c.3471+3G>T	ENSP00000513453.1:n.3471+3G>T
ENST00000697832.1:n.3693+3G>T
ENST00000697833.1:c.*488+3G>T	ENSP00000513454.1:n.*488+3G>T
ENST00000697834.1:n.4167G>T
ENST00000697835.1:c.*3058+3G>T	ENSP00000513455.1:n.*3058+3G>T
ENST00000697836.1:n.3871+3G>T
ENST00000697837.1:c.*656+3G>T	ENSP00000513456.1:n.*656+3G>T
ENST00000697838.1:c.3405+3G>T	ENSP00000513457.1:n.3405+3G>T
ENST00000697839.1:n.4261G>T
ENST00000697840.1:c.3576+3G>T	ENSP00000513458.1:n.3576+3G>T
ENST00000697841.1:n.4360G>T
ENST00000697842.1:n.3795+3G>T
ENST00000375394.7:c.3540+3G>T MANE Select	ENSP00000364543.2:n.3540+3G>T
ENST00000375394.6:c.3540+3G>T	ENSP00000364543.2:n.3540+3G>T
ENST00000465703.5:n.4179G>T
ENST00000470453.1:n.383-92G>T
ENST00000471818.1:n.469+3G>T
ENST00000474839.5:c.*2912+3G>T	ENSP00000420470.1:n.*2912+3G>T
ENST00000483553.5:c.979G>T
ENST00000491994.1:c.538G>T
NM_006929.4:c.3540+3G>T	NP_008860.4:n.3540+3G>T
XR_001743586.2:n.3642G>T
XR_926301.3:n.3556+3G>T
NM_006929.5:c.3540+3G>T MANE Select	NP_008860.4:n.3540+3G>T