Canonical Allele Identifier: CA2678079017

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969721-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969721C>T , CM000668.2:g.31969721C>T	GRCh38
NC_000006.11:g.31937498C>T , CM000668.1:g.31937498C>T	GRCh37
NC_000006.10:g.32045477C>T	NCBI36
NG_032652.1:g.15918C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2795C>T	ENSP00000419905.1:n.*2795C>T
ENST00000485349.6:n.4223C>T
ENST00000491994.2:c.*289C>T	ENSP00000417586.2:n.*289C>T
ENST00000494058.6:n.4049C>T
ENST00000697831.1:c.*6C>T	ENSP00000513453.1:n.*6C>T
ENST00000697832.1:n.3900C>T
ENST00000697834.1:n.4465C>T
ENST00000697835.1:c.*3265C>T	ENSP00000513455.1:n.*3265C>T
ENST00000697837.1:c.*863C>T	ENSP00000513456.1:n.*863C>T
ENST00000697838.1:c.*6C>T	ENSP00000513457.1:n.*6C>T
ENST00000697839.1:n.4559C>T
ENST00000697840.1:c.*6C>T	ENSP00000513458.1:n.*6C>T
ENST00000697841.1:n.4658C>T
ENST00000697842.1:n.4002C>T
ENST00000375394.7:c.*6C>T MANE Select	ENSP00000364543.2:n.*6C>T
ENST00000375394.6:c.*6C>T	ENSP00000364543.2:n.*6C>T
ENST00000465703.5:n.4477C>T
ENST00000471818.1:n.676C>T
ENST00000474839.5:c.*3119C>T	ENSP00000420470.1:n.*3119C>T
ENST00000483553.5:c.1277C>T
ENST00000491994.1:c.836C>T
NM_006929.4:c.*6C>T	NP_008860.4:n.*6C>T
XR_926301.3:n.3763C>T
NM_006929.5:c.*6C>T MANE Select	NP_008860.4:n.*6C>T