Canonical Allele Identifier: CA1619384480

Gene: SKIC2

Linked Data

• dbSNP Id: rs1773070633
• gnomAD v4: 6-31969750-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969750A>G , CM000668.2:g.31969750A>G	GRCh38
NC_000006.11:g.31937527A>G , CM000668.1:g.31937527A>G	GRCh37
NC_000006.10:g.32045506A>G	NCBI36
NG_032652.1:g.15947A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2824A>G	ENSP00000419905.1:n.*2824A>G
ENST00000697831.1:c.*35A>G	ENSP00000513453.1:n.*35A>G
ENST00000697835.1:c.*3294A>G	ENSP00000513455.1:n.*3294A>G
ENST00000697838.1:c.*35A>G	ENSP00000513457.1:n.*35A>G
ENST00000375394.7:c.*35A>G MANE Select	ENSP00000364543.2:n.*35A>G
ENST00000375394.6:c.*35A>G	ENSP00000364543.2:n.*35A>G
ENST00000465703.5:n.4506A>G
ENST00000471818.1:n.705A>G
ENST00000483553.5:c.1306A>G
ENST00000491994.1:c.865A>G
NM_006929.4:c.*35A>G	NP_008860.4:n.*35A>G
XR_926301.3:n.3792A>G
NM_006929.5:c.*35A>G MANE Select	NP_008860.4:n.*35A>G