Canonical Allele Identifier: CA2678078847

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31969495-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969495T>C , CM000668.2:g.31969495T>C	GRCh38
NC_000006.11:g.31937272T>C , CM000668.1:g.31937272T>C	GRCh37
NC_000006.10:g.32045251T>C	NCBI36
NG_032652.1:g.15692T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2569T>C	ENSP00000419905.1:n.*2569T>C
ENST00000483553.6:c.*582T>C	ENSP00000420332.2:n.*582T>C
ENST00000485349.6:n.4017-20T>C
ENST00000491994.2:c.*63T>C	ENSP00000417586.2:n.*63T>C
ENST00000494058.6:n.3843-20T>C
ENST00000697831.1:c.3472-20T>C	ENSP00000513453.1:n.3472-20T>C
ENST00000697832.1:n.3694-20T>C
ENST00000697833.1:c.*489-20T>C	ENSP00000513454.1:n.*489-20T>C
ENST00000697834.1:n.4239T>C
ENST00000697835.1:c.*3059-20T>C	ENSP00000513455.1:n.*3059-20T>C
ENST00000697836.1:n.3875T>C
ENST00000697837.1:c.*657-20T>C	ENSP00000513456.1:n.*657-20T>C
ENST00000697838.1:c.3406-20T>C	ENSP00000513457.1:n.3406-20T>C
ENST00000697839.1:n.4333T>C
ENST00000697840.1:c.3577-20T>C	ENSP00000513458.1:n.3577-20T>C
ENST00000697841.1:n.4432T>C
ENST00000697842.1:n.3796-20T>C
ENST00000375394.7:c.3541-20T>C MANE Select	ENSP00000364543.2:n.3541-20T>C
ENST00000375394.6:c.3541-20T>C	ENSP00000364543.2:n.3541-20T>C
ENST00000465703.5:n.4251T>C
ENST00000470453.1:n.383-20T>C
ENST00000471818.1:n.470-20T>C
ENST00000474839.5:c.*2913-20T>C	ENSP00000420470.1:n.*2913-20T>C
ENST00000483553.5:c.1051T>C
ENST00000491994.1:c.610T>C
NM_006929.4:c.3541-20T>C	NP_008860.4:n.3541-20T>C
XR_001743586.2:n.3714T>C
XR_926301.3:n.3557-20T>C
NM_006929.5:c.3541-20T>C MANE Select	NP_008860.4:n.3541-20T>C