Canonical Allele Identifier: CA2678079021

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969724-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969724T>A , CM000668.2:g.31969724T>A	GRCh38
NC_000006.11:g.31937501T>A , CM000668.1:g.31937501T>A	GRCh37
NC_000006.10:g.32045480T>A	NCBI36
NG_032652.1:g.15921T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2798T>A	ENSP00000419905.1:n.*2798T>A
ENST00000494058.6:n.4052T>A
ENST00000697831.1:c.*9T>A	ENSP00000513453.1:n.*9T>A
ENST00000697832.1:n.3903T>A
ENST00000697835.1:c.*3268T>A	ENSP00000513455.1:n.*3268T>A
ENST00000697837.1:c.*866T>A	ENSP00000513456.1:n.*866T>A
ENST00000697838.1:c.*9T>A	ENSP00000513457.1:n.*9T>A
ENST00000697840.1:c.*9T>A	ENSP00000513458.1:n.*9T>A
ENST00000697841.1:n.4661T>A
ENST00000697842.1:n.4005T>A
ENST00000375394.7:c.*9T>A MANE Select	ENSP00000364543.2:n.*9T>A
ENST00000375394.6:c.*9T>A	ENSP00000364543.2:n.*9T>A
ENST00000465703.5:n.4480T>A
ENST00000471818.1:n.679T>A
ENST00000474839.5:c.*3122T>A	ENSP00000420470.1:n.*3122T>A
ENST00000483553.5:c.1280T>A
ENST00000491994.1:c.839T>A
NM_006929.4:c.*9T>A	NP_008860.4:n.*9T>A
XR_926301.3:n.3766T>A
NM_006929.5:c.*9T>A MANE Select	NP_008860.4:n.*9T>A