Canonical Allele Identifier: CA363490807

Gene: SKIC2

Linked Data

• dbSNP Id: rs1773046120
• gnomAD v3: 6-31969534-G-A
• gnomAD v4: 6-31969534-G-A
• MyVariant Identifiers: chr6:g.31937311G>A (hg19) ; chr6:g.31969534G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969534G>A , CM000668.2:g.31969534G>A	GRCh38
NC_000006.11:g.31937311G>A , CM000668.1:g.31937311G>A	GRCh37
NC_000006.10:g.32045290G>A	NCBI36
NG_032652.1:g.15731G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2608G>A	ENSP00000419905.1:n.*2608G>A
ENST00000485349.6:n.4036G>A
ENST00000491994.2:c.*102G>A	ENSP00000417586.2:n.*102G>A
ENST00000494058.6:n.3862G>A
ENST00000697831.1:c.3491G>A	ENSP00000513453.1:p.Gly1164Glu
ENST00000697832.1:n.3713G>A
ENST00000697833.1:c.*508G>A	ENSP00000513454.1:n.*508G>A
ENST00000697834.1:n.4278G>A
ENST00000697835.1:c.*3078G>A	ENSP00000513455.1:n.*3078G>A
ENST00000697836.1:n.3914G>A
ENST00000697837.1:c.*676G>A	ENSP00000513456.1:n.*676G>A
ENST00000697838.1:c.3425G>A	ENSP00000513457.1:p.Gly1142Glu
ENST00000697839.1:n.4372G>A
ENST00000697840.1:c.3596G>A	ENSP00000513458.1:p.Gly1199Glu
ENST00000697841.1:n.4471G>A
ENST00000697842.1:n.3815G>A
ENST00000375394.7:c.3560G>A MANE Select	ENSP00000364543.2:p.Gly1187Glu
ENST00000375394.6:c.3560G>A	ENSP00000364543.2:p.Gly1187Glu
ENST00000465703.5:n.4290G>A
ENST00000470453.1:n.402G>A
ENST00000471818.1:n.489G>A
ENST00000474839.5:c.*2932G>A	ENSP00000420470.1:n.*2932G>A
ENST00000483553.5:c.1090G>A
ENST00000491994.1:c.649G>A
NM_006929.4:c.3560G>A	NP_008860.4:p.Gly1187Glu
XR_926301.3:n.3576G>A
NM_006929.5:c.3560G>A MANE Select	NP_008860.4:p.Gly1187Glu