Canonical Allele Identifier: CA363435379

Gene: SKIC2

Linked Data

• gnomAD v4: 6-31960227-C-A
• MyVariant Identifiers: chr6:g.31928004C>A (hg19) ; chr6:g.31960227C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31960227C>A , CM000668.2:g.31960227C>A	GRCh38
NC_000006.11:g.31928004C>A , CM000668.1:g.31928004C>A	GRCh37
NC_000006.10:g.32035983C>A	NCBI36
NG_032652.1:g.6424C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.244C>A	ENSP00000419905.1:p.Gln82Lys
ENST00000483553.6:c.244C>A	ENSP00000420332.2:p.Gln82Lys
ENST00000485349.6:n.285C>A
ENST00000491994.2:c.244C>A	ENSP00000417586.2:p.Gln82Lys
ENST00000494058.6:n.301C>A
ENST00000697831.1:c.244C>A	ENSP00000513453.1:p.Gln82Lys
ENST00000697832.1:n.320C>A
ENST00000697833.1:c.244C>A	ENSP00000513454.1:p.Gln82Lys
ENST00000697834.1:n.296C>A
ENST00000697835.1:c.263C>A	ENSP00000513455.1:p.Ala88Glu
ENST00000697836.1:n.280C>A
ENST00000697837.1:c.244C>A	ENSP00000513456.1:p.Gln82Lys
ENST00000697838.1:c.109C>A	ENSP00000513457.1:p.Gln37Lys
ENST00000697839.1:n.266C>A
ENST00000697840.1:c.244C>A	ENSP00000513458.1:p.Gln82Lys
ENST00000697841.1:n.255C>A
ENST00000697842.1:n.244C>A
ENST00000375394.7:c.244C>A MANE Select	ENSP00000364543.2:p.Gln82Lys
ENST00000375394.6:c.244C>A	ENSP00000364543.2:p.Gln82Lys
ENST00000461073.5:c.244C>A	ENSP00000419905.1:p.Gln82Lys
ENST00000465703.5:n.296C>A
ENST00000474839.5:c.127-814C>A	ENSP00000420470.1:n.127-814C>A
ENST00000488648.5:n.320C>A
ENST00000628157.1:c.127-814C>A	ENSP00000485707.1:n.127-814C>A
NM_006929.4:c.244C>A	NP_008860.4:p.Gln82Lys
XM_006715168.2:c.244C>A	XP_006715231.1:p.Gln82Lys
XM_011514815.1:c.244C>A	XP_011513117.1:p.Gln82Lys
XR_926301.1:n.332C>A
XM_011514815.3:c.244C>A	XP_011513117.1:p.Gln82Lys
XR_001743586.2:n.280C>A
XR_926301.3:n.280C>A
NM_006929.5:c.244C>A MANE Select	NP_008860.4:p.Gln82Lys