Canonical Allele Identifier: CA2678077566

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31960129-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31960129C>A , CM000668.2:g.31960129C>A	GRCh38
NC_000006.11:g.31927906C>A , CM000668.1:g.31927906C>A	GRCh37
NC_000006.10:g.32035885C>A	NCBI36
NG_032652.1:g.6326C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.236+10C>A	ENSP00000419905.1:n.236+10C>A
ENST00000483553.6:c.236+10C>A	ENSP00000420332.2:n.236+10C>A
ENST00000485349.6:n.277+10C>A
ENST00000491994.2:c.236+10C>A	ENSP00000417586.2:n.236+10C>A
ENST00000494058.6:n.293+10C>A
ENST00000697831.1:c.236+10C>A	ENSP00000513453.1:n.236+10C>A
ENST00000697832.1:n.312+10C>A
ENST00000697833.1:c.236+10C>A	ENSP00000513454.1:n.236+10C>A
ENST00000697834.1:n.288+10C>A
ENST00000697835.1:c.236+10C>A	ENSP00000513455.1:n.236+10C>A
ENST00000697836.1:n.272+10C>A
ENST00000697837.1:c.236+10C>A	ENSP00000513456.1:n.236+10C>A
ENST00000697838.1:c.101+10C>A	ENSP00000513457.1:n.101+10C>A
ENST00000697839.1:n.258+10C>A
ENST00000697840.1:c.236+10C>A	ENSP00000513458.1:n.236+10C>A
ENST00000697841.1:n.247+10C>A
ENST00000697842.1:n.236+10C>A
ENST00000375394.7:c.236+10C>A MANE Select	ENSP00000364543.2:n.236+10C>A
ENST00000375394.6:c.236+10C>A	ENSP00000364543.2:n.236+10C>A
ENST00000461073.5:c.236+10C>A	ENSP00000419905.1:n.236+10C>A
ENST00000465703.5:n.288+10C>A
ENST00000474839.5:c.126+729C>A	ENSP00000420470.1:n.126+729C>A
ENST00000488648.5:n.312+10C>A
ENST00000628157.1:c.126+729C>A	ENSP00000485707.1:n.126+729C>A
NM_006929.4:c.236+10C>A	NP_008860.4:n.236+10C>A
XM_006715168.2:c.236+10C>A	XP_006715231.1:n.236+10C>A
XM_011514815.1:c.236+10C>A	XP_011513117.1:n.236+10C>A
XR_926301.1:n.324+10C>A
XM_011514815.3:c.236+10C>A	XP_011513117.1:n.236+10C>A
XR_001743586.2:n.272+10C>A
XR_926301.3:n.272+10C>A
NM_006929.5:c.236+10C>A MANE Select	NP_008860.4:n.236+10C>A