Canonical Allele Identifier: CA823925268

Gene: SKIC2

Linked Data

• dbSNP Id: rs1474564934
• gnomAD v4: 6-31969457-G-A
• MyVariant Identifiers: chr6:g.31937234G>A (hg19) ; chr6:g.31969457G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969457G>A , CM000668.2:g.31969457G>A	GRCh38
NC_000006.11:g.31937234G>A , CM000668.1:g.31937234G>A	GRCh37
NC_000006.10:g.32045213G>A	NCBI36
NG_032652.1:g.15654G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2531G>A	ENSP00000419905.1:n.*2531G>A
ENST00000483553.6:c.*544G>A	ENSP00000420332.2:n.*544G>A
ENST00000485349.6:n.4016+37G>A
ENST00000491994.2:c.*25G>A	ENSP00000417586.2:n.*25G>A
ENST00000494058.6:n.3842+37G>A
ENST00000697831.1:c.3471+37G>A	ENSP00000513453.1:n.3471+37G>A
ENST00000697832.1:n.3693+37G>A
ENST00000697833.1:c.*488+37G>A	ENSP00000513454.1:n.*488+37G>A
ENST00000697834.1:n.4201G>A
ENST00000697835.1:c.*3058+37G>A	ENSP00000513455.1:n.*3058+37G>A
ENST00000697836.1:n.3872-35G>A
ENST00000697837.1:c.*656+37G>A	ENSP00000513456.1:n.*656+37G>A
ENST00000697838.1:c.3405+37G>A	ENSP00000513457.1:n.3405+37G>A
ENST00000697839.1:n.4295G>A
ENST00000697840.1:c.3576+37G>A	ENSP00000513458.1:n.3576+37G>A
ENST00000697841.1:n.4394G>A
ENST00000697842.1:n.3795+37G>A
ENST00000375394.7:c.3540+37G>A MANE Select	ENSP00000364543.2:n.3540+37G>A
ENST00000375394.6:c.3540+37G>A	ENSP00000364543.2:n.3540+37G>A
ENST00000465703.5:n.4213G>A
ENST00000470453.1:n.383-58G>A
ENST00000471818.1:n.469+37G>A
ENST00000474839.5:c.*2912+37G>A	ENSP00000420470.1:n.*2912+37G>A
ENST00000483553.5:c.1013G>A
ENST00000491994.1:c.572G>A
NM_006929.4:c.3540+37G>A	NP_008860.4:n.3540+37G>A
XR_001743586.2:n.3676G>A
XR_926301.3:n.3556+37G>A
NM_006929.5:c.3540+37G>A MANE Select	NP_008860.4:n.3540+37G>A