Canonical Allele Identifier: CA2678079015

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969719-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969719C>A , CM000668.2:g.31969719C>A	GRCh38
NC_000006.11:g.31937496C>A , CM000668.1:g.31937496C>A	GRCh37
NC_000006.10:g.32045475C>A	NCBI36
NG_032652.1:g.15916C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2793C>A	ENSP00000419905.1:n.*2793C>A
ENST00000485349.6:n.4221C>A
ENST00000491994.2:c.*287C>A	ENSP00000417586.2:n.*287C>A
ENST00000494058.6:n.4047C>A
ENST00000697831.1:c.*4C>A	ENSP00000513453.1:n.*4C>A
ENST00000697832.1:n.3898C>A
ENST00000697834.1:n.4463C>A
ENST00000697835.1:c.*3263C>A	ENSP00000513455.1:n.*3263C>A
ENST00000697837.1:c.*861C>A	ENSP00000513456.1:n.*861C>A
ENST00000697838.1:c.*4C>A	ENSP00000513457.1:n.*4C>A
ENST00000697839.1:n.4557C>A
ENST00000697840.1:c.*4C>A	ENSP00000513458.1:n.*4C>A
ENST00000697841.1:n.4656C>A
ENST00000697842.1:n.4000C>A
ENST00000375394.7:c.*4C>A MANE Select	ENSP00000364543.2:n.*4C>A
ENST00000375394.6:c.*4C>A	ENSP00000364543.2:n.*4C>A
ENST00000465703.5:n.4475C>A
ENST00000471818.1:n.674C>A
ENST00000474839.5:c.*3117C>A	ENSP00000420470.1:n.*3117C>A
ENST00000483553.5:c.1275C>A
ENST00000491994.1:c.834C>A
NM_006929.4:c.*4C>A	NP_008860.4:n.*4C>A
XR_926301.3:n.3761C>A
NM_006929.5:c.*4C>A MANE Select	NP_008860.4:n.*4C>A