Canonical Allele Identifier: CA363492577

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937481T>C (hg19) ; chr6:g.31969704T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969704T>C , CM000668.2:g.31969704T>C	GRCh38
NC_000006.11:g.31937481T>C , CM000668.1:g.31937481T>C	GRCh37
NC_000006.10:g.32045460T>C	NCBI36
NG_032652.1:g.15901T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2778T>C	ENSP00000419905.1:n.*2778T>C
ENST00000485349.6:n.4206T>C
ENST00000491994.2:c.*272T>C	ENSP00000417586.2:n.*272T>C
ENST00000494058.6:n.4032T>C
ENST00000697831.1:c.3661T>C	ENSP00000513453.1:p.Tyr1221His
ENST00000697832.1:n.3883T>C
ENST00000697834.1:n.4448T>C
ENST00000697835.1:c.*3248T>C	ENSP00000513455.1:n.*3248T>C
ENST00000697837.1:c.*846T>C	ENSP00000513456.1:n.*846T>C
ENST00000697838.1:c.3595T>C	ENSP00000513457.1:p.Tyr1199His
ENST00000697839.1:n.4542T>C
ENST00000697840.1:c.3766T>C	ENSP00000513458.1:p.Tyr1256His
ENST00000697841.1:n.4641T>C
ENST00000697842.1:n.3985T>C
ENST00000375394.7:c.3730T>C MANE Select	ENSP00000364543.2:p.Tyr1244His
ENST00000375394.6:c.3730T>C	ENSP00000364543.2:p.Tyr1244His
ENST00000465703.5:n.4460T>C
ENST00000471818.1:n.659T>C
ENST00000474839.5:c.*3102T>C	ENSP00000420470.1:n.*3102T>C
ENST00000483553.5:c.1260T>C
ENST00000491994.1:c.819T>C
NM_006929.4:c.3730T>C	NP_008860.4:p.Tyr1244His
XR_926301.3:n.3746T>C
NM_006929.5:c.3730T>C MANE Select	NP_008860.4:p.Tyr1244His