Canonical Allele Identifier: CA363491414

Gene: SKIC2

Linked Data

• dbSNP Id: rs372110283
• gnomAD v2: 6-31937366-G-T
• gnomAD v4: 6-31969589-G-T
• MyVariant Identifiers: chr6:g.31937366G>T (hg19) ; chr6:g.31969589G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969589G>T , CM000668.2:g.31969589G>T	GRCh38
NC_000006.11:g.31937366G>T , CM000668.1:g.31937366G>T	GRCh37
NC_000006.10:g.32045345G>T	NCBI36
NG_032652.1:g.15786G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2663G>T	ENSP00000419905.1:n.*2663G>T
ENST00000485349.6:n.4091G>T
ENST00000491994.2:c.*157G>T	ENSP00000417586.2:n.*157G>T
ENST00000494058.6:n.3917G>T
ENST00000697831.1:c.3546G>T	ENSP00000513453.1:p.Glu1182Asp
ENST00000697832.1:n.3768G>T
ENST00000697833.1:c.*563G>T	ENSP00000513454.1:n.*563G>T
ENST00000697834.1:n.4333G>T
ENST00000697835.1:c.*3133G>T	ENSP00000513455.1:n.*3133G>T
ENST00000697836.1:n.3969G>T
ENST00000697837.1:c.*731G>T	ENSP00000513456.1:n.*731G>T
ENST00000697838.1:c.3480G>T	ENSP00000513457.1:p.Glu1160Asp
ENST00000697839.1:n.4427G>T
ENST00000697840.1:c.3651G>T	ENSP00000513458.1:p.Glu1217Asp
ENST00000697841.1:n.4526G>T
ENST00000697842.1:n.3870G>T
ENST00000375394.7:c.3615G>T MANE Select	ENSP00000364543.2:p.Glu1205Asp
ENST00000375394.6:c.3615G>T	ENSP00000364543.2:p.Glu1205Asp
ENST00000465703.5:n.4345G>T
ENST00000471818.1:n.544G>T
ENST00000474839.5:c.*2987G>T	ENSP00000420470.1:n.*2987G>T
ENST00000483553.5:c.1145G>T
ENST00000491994.1:c.704G>T
NM_006929.4:c.3615G>T	NP_008860.4:p.Glu1205Asp
XR_926301.3:n.3631G>T
NM_006929.5:c.3615G>T MANE Select	NP_008860.4:p.Glu1205Asp