Canonical Allele Identifier: CA363492603

Gene: SKIC2

Linked Data

• dbSNP Id: rs1253511721
• gnomAD v2: 6-31937484-A-C
• gnomAD v4: 6-31969707-A-C
• MyVariant Identifiers: chr6:g.31937484A>C (hg19) ; chr6:g.31969707A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969707A>C , CM000668.2:g.31969707A>C	GRCh38
NC_000006.11:g.31937484A>C , CM000668.1:g.31937484A>C	GRCh37
NC_000006.10:g.32045463A>C	NCBI36
NG_032652.1:g.15904A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2781A>C	ENSP00000419905.1:n.*2781A>C
ENST00000485349.6:n.4209A>C
ENST00000491994.2:c.*275A>C	ENSP00000417586.2:n.*275A>C
ENST00000494058.6:n.4035A>C
ENST00000697831.1:c.3664A>C	ENSP00000513453.1:p.Thr1222Pro
ENST00000697832.1:n.3886A>C
ENST00000697834.1:n.4451A>C
ENST00000697835.1:c.*3251A>C	ENSP00000513455.1:n.*3251A>C
ENST00000697837.1:c.*849A>C	ENSP00000513456.1:n.*849A>C
ENST00000697838.1:c.3598A>C	ENSP00000513457.1:p.Thr1200Pro
ENST00000697839.1:n.4545A>C
ENST00000697840.1:c.3769A>C	ENSP00000513458.1:p.Thr1257Pro
ENST00000697841.1:n.4644A>C
ENST00000697842.1:n.3988A>C
ENST00000375394.7:c.3733A>C MANE Select	ENSP00000364543.2:p.Thr1245Pro
ENST00000375394.6:c.3733A>C	ENSP00000364543.2:p.Thr1245Pro
ENST00000465703.5:n.4463A>C
ENST00000471818.1:n.662A>C
ENST00000474839.5:c.*3105A>C	ENSP00000420470.1:n.*3105A>C
ENST00000483553.5:c.1263A>C
ENST00000491994.1:c.822A>C
NM_006929.4:c.3733A>C	NP_008860.4:p.Thr1245Pro
XR_926301.3:n.3749A>C
NM_006929.5:c.3733A>C MANE Select	NP_008860.4:p.Thr1245Pro