Canonical Allele Identifier: CA363434284

Gene: SKIC2

Linked Data

• dbSNP Id: rs1772374986
• gnomAD v4: 6-31960052-G-A
• MyVariant Identifiers: chr6:g.31927829G>A (hg19) ; chr6:g.31960052G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31960052G>A , CM000668.2:g.31960052G>A	GRCh38
NC_000006.11:g.31927829G>A , CM000668.1:g.31927829G>A	GRCh37
NC_000006.10:g.32035808G>A	NCBI36
NG_032652.1:g.6249G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.169G>A	ENSP00000419905.1:p.Glu57Lys
ENST00000483553.6:c.169G>A	ENSP00000420332.2:p.Glu57Lys
ENST00000485349.6:n.210G>A
ENST00000491994.2:c.169G>A	ENSP00000417586.2:p.Glu57Lys
ENST00000494058.6:n.226G>A
ENST00000697831.1:c.169G>A	ENSP00000513453.1:p.Glu57Lys
ENST00000697832.1:n.245G>A
ENST00000697833.1:c.169G>A	ENSP00000513454.1:p.Glu57Lys
ENST00000697834.1:n.221G>A
ENST00000697835.1:c.169G>A	ENSP00000513455.1:p.Glu57Lys
ENST00000697836.1:n.205G>A
ENST00000697837.1:c.169G>A	ENSP00000513456.1:p.Glu57Lys
ENST00000697838.1:c.34G>A	ENSP00000513457.1:p.Glu12Lys
ENST00000697839.1:n.191G>A
ENST00000697840.1:c.169G>A	ENSP00000513458.1:p.Glu57Lys
ENST00000697841.1:n.180G>A
ENST00000697842.1:n.169G>A
ENST00000375394.7:c.169G>A MANE Select	ENSP00000364543.2:p.Glu57Lys
ENST00000375394.6:c.169G>A	ENSP00000364543.2:p.Glu57Lys
ENST00000461073.5:c.169G>A	ENSP00000419905.1:p.Glu57Lys
ENST00000465703.5:n.221G>A
ENST00000474839.5:c.126+652G>A	ENSP00000420470.1:n.126+652G>A
ENST00000488648.5:n.245G>A
ENST00000628157.1:c.126+652G>A	ENSP00000485707.1:n.126+652G>A
NM_006929.4:c.169G>A	NP_008860.4:p.Glu57Lys
XM_006715168.2:c.169G>A	XP_006715231.1:p.Glu57Lys
XM_011514815.1:c.169G>A	XP_011513117.1:p.Glu57Lys
XR_926301.1:n.257G>A
XM_011514815.3:c.169G>A	XP_011513117.1:p.Glu57Lys
XR_001743586.2:n.205G>A
XR_926301.3:n.205G>A
NM_006929.5:c.169G>A MANE Select	NP_008860.4:p.Glu57Lys