Canonical Allele Identifier: CA363435779

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31960257-G-A
• MyVariant Identifiers: chr6:g.31928034G>A (hg19) ; chr6:g.31960257G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31960257G>A , CM000668.2:g.31960257G>A	GRCh38
NC_000006.11:g.31928034G>A , CM000668.1:g.31928034G>A	GRCh37
NC_000006.10:g.32036013G>A	NCBI36
NG_032652.1:g.6454G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.274G>A	ENSP00000419905.1:p.Ala92Thr
ENST00000483553.6:c.274G>A	ENSP00000420332.2:p.Ala92Thr
ENST00000485349.6:n.315G>A
ENST00000491994.2:c.274G>A	ENSP00000417586.2:p.Ala92Thr
ENST00000494058.6:n.331G>A
ENST00000697831.1:c.274G>A	ENSP00000513453.1:p.Ala92Thr
ENST00000697832.1:n.350G>A
ENST00000697833.1:c.274G>A	ENSP00000513454.1:p.Ala92Thr
ENST00000697834.1:n.326G>A
ENST00000697835.1:c.293G>A	ENSP00000513455.1:p.Gly98Asp
ENST00000697836.1:n.310G>A
ENST00000697837.1:c.274G>A	ENSP00000513456.1:p.Ala92Thr
ENST00000697838.1:c.139G>A	ENSP00000513457.1:p.Ala47Thr
ENST00000697839.1:n.296G>A
ENST00000697840.1:c.274G>A	ENSP00000513458.1:p.Ala92Thr
ENST00000697841.1:n.285G>A
ENST00000697842.1:n.274G>A
ENST00000375394.7:c.274G>A MANE Select	ENSP00000364543.2:p.Ala92Thr
ENST00000375394.6:c.274G>A	ENSP00000364543.2:p.Ala92Thr
ENST00000461073.5:c.274G>A	ENSP00000419905.1:p.Ala92Thr
ENST00000465703.5:n.326G>A
ENST00000474839.5:c.127-784G>A	ENSP00000420470.1:n.127-784G>A
ENST00000488648.5:n.350G>A
ENST00000628157.1:c.127-784G>A	ENSP00000485707.1:n.127-784G>A
NM_006929.4:c.274G>A	NP_008860.4:p.Ala92Thr
XM_006715168.2:c.274G>A	XP_006715231.1:p.Ala92Thr
XM_011514815.1:c.274G>A	XP_011513117.1:p.Ala92Thr
XR_926301.1:n.362G>A
XM_011514815.3:c.274G>A	XP_011513117.1:p.Ala92Thr
XR_001743586.2:n.310G>A
XR_926301.3:n.310G>A
NM_006929.5:c.274G>A MANE Select	NP_008860.4:p.Ala92Thr