Canonical Allele Identifier: CA2678078836

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969462-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969462G>A , CM000668.2:g.31969462G>A	GRCh38
NC_000006.11:g.31937239G>A , CM000668.1:g.31937239G>A	GRCh37
NC_000006.10:g.32045218G>A	NCBI36
NG_032652.1:g.15659G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2536G>A	ENSP00000419905.1:n.*2536G>A
ENST00000483553.6:c.*549G>A	ENSP00000420332.2:n.*549G>A
ENST00000485349.6:n.4016+42G>A
ENST00000491994.2:c.*30G>A	ENSP00000417586.2:n.*30G>A
ENST00000494058.6:n.3842+42G>A
ENST00000697831.1:c.3471+42G>A	ENSP00000513453.1:n.3471+42G>A
ENST00000697832.1:n.3693+42G>A
ENST00000697833.1:c.*488+42G>A	ENSP00000513454.1:n.*488+42G>A
ENST00000697834.1:n.4206G>A
ENST00000697835.1:c.*3058+42G>A	ENSP00000513455.1:n.*3058+42G>A
ENST00000697836.1:n.3872-30G>A
ENST00000697837.1:c.*656+42G>A	ENSP00000513456.1:n.*656+42G>A
ENST00000697838.1:c.3405+42G>A	ENSP00000513457.1:n.3405+42G>A
ENST00000697839.1:n.4300G>A
ENST00000697840.1:c.3576+42G>A	ENSP00000513458.1:n.3576+42G>A
ENST00000697841.1:n.4399G>A
ENST00000697842.1:n.3795+42G>A
ENST00000375394.7:c.3540+42G>A MANE Select	ENSP00000364543.2:n.3540+42G>A
ENST00000375394.6:c.3540+42G>A	ENSP00000364543.2:n.3540+42G>A
ENST00000465703.5:n.4218G>A
ENST00000470453.1:n.383-53G>A
ENST00000471818.1:n.469+42G>A
ENST00000474839.5:c.*2912+42G>A	ENSP00000420470.1:n.*2912+42G>A
ENST00000483553.5:c.1018G>A
ENST00000491994.1:c.577G>A
NM_006929.4:c.3540+42G>A	NP_008860.4:n.3540+42G>A
XR_001743586.2:n.3681G>A
XR_926301.3:n.3556+42G>A
NM_006929.5:c.3540+42G>A MANE Select	NP_008860.4:n.3540+42G>A