Canonical Allele Identifier: CA3730124

Gene: SKIC2

Linked Data

• dbSNP Id: rs765938677
• ExAC: 6:31937501 T / C
• gnomAD v2: 6-31937501-T-C
• gnomAD v4: 6-31969724-T-C
• MyVariant Identifiers: chr6:g.31937501T>C (hg19) ; chr6:g.31969724T>C (hg38)

Genomic Alleles

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

Transcript Alleles

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