Canonical Allele Identifier: CA3729842

Gene: SKIC2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31967790G>A , CM000668.2:g.31967790G>A	GRCh38
NC_000006.11:g.31935567G>A , CM000668.1:g.31935567G>A	GRCh37
NC_000006.10:g.32043546G>A	NCBI36
NG_032652.1:g.13987G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006929.5:c.2659G>A MANE Select	NP_008860.4:p.Asp887Asn
ENST00000375394.7:c.2659G>A MANE Select	ENSP00000364543.2:p.Asp887Asn
NM_006929.4:c.2659G>A	NP_008860.4:p.Asp887Asn
ENST00000375394.6:c.2659G>A	ENSP00000364543.2:p.Asp887Asn
ENST00000461073.6:c.*1678G>A	ENSP00000419905.1:n.*1678G>A
ENST00000461915.5:n.338G>A
ENST00000465703.5:n.3158G>A
ENST00000474839.5:c.*2031G>A	ENSP00000420470.1:n.*2031G>A
ENST00000483553.5:c.32G>A
ENST00000483553.6:c.2659G>A	ENSP00000420332.2:p.Asp887Asn
ENST00000484835.1:n.220G>A
ENST00000485349.6:n.2700G>A
ENST00000491994.2:c.2659G>A	ENSP00000417586.2:p.Asp887Asn
ENST00000494058.5:n.302G>A
ENST00000494058.6:n.2716G>A
ENST00000697831.1:c.2659G>A	ENSP00000513453.1:p.Asp887Asn
ENST00000697832.1:n.2812G>A
ENST00000697833.1:c.2659G>A	ENSP00000513454.1:p.Asp887Asn
ENST00000697834.1:n.2711G>A
ENST00000697835.1:c.*2177G>A	ENSP00000513455.1:n.*2177G>A
ENST00000697836.1:n.2695G>A
ENST00000697837.1:c.2659G>A	ENSP00000513456.1:p.Asp887Asn
ENST00000697838.1:c.2524G>A	ENSP00000513457.1:p.Asp842Asn
ENST00000697839.1:n.2942G>A
ENST00000697840.1:c.2695G>A	ENSP00000513458.1:p.Asp899Asn
ENST00000697841.1:n.3231G>A
ENST00000697842.1:n.2669G>A
XM_006715168.2:c.2659G>A	XP_006715231.1:p.Asp887Asn
XM_011514815.1:c.2659G>A	XP_011513117.1:p.Asp887Asn
XM_011514815.3:c.2659G>A	XP_011513117.1:p.Asp887Asn
XR_001743586.2:n.2695G>A
XR_926301.1:n.2747G>A
XR_926301.3:n.2695G>A