Canonical Allele Identifier: CA363450692

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31930261C>A (hg19) ; chr6:g.31962484C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31962484C>A , CM000668.2:g.31962484C>A	GRCh38
NC_000006.11:g.31930261C>A , CM000668.1:g.31930261C>A	GRCh37
NC_000006.10:g.32038240C>A	NCBI36
NG_032652.1:g.8681C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*226C>A	ENSP00000419905.1:n.*226C>A
ENST00000483553.6:c.1110C>A	ENSP00000420332.2:p.Phe370Leu
ENST00000485349.6:n.1151C>A
ENST00000491994.2:c.1110C>A	ENSP00000417586.2:p.Phe370Leu
ENST00000494058.6:n.1167C>A
ENST00000697831.1:c.1110C>A	ENSP00000513453.1:p.Phe370Leu
ENST00000697832.1:n.1186C>A
ENST00000697833.1:c.1110C>A	ENSP00000513454.1:p.Phe370Leu
ENST00000697834.1:n.1162C>A
ENST00000697835.1:c.*628C>A	ENSP00000513455.1:n.*628C>A
ENST00000697836.1:n.1146C>A
ENST00000697837.1:c.1110C>A	ENSP00000513456.1:p.Phe370Leu
ENST00000697838.1:c.975C>A	ENSP00000513457.1:p.Phe325Leu
ENST00000697839.1:n.1393C>A
ENST00000697840.1:c.1146C>A	ENSP00000513458.1:p.Phe382Leu
ENST00000697841.1:n.1682C>A
ENST00000697842.1:n.1110C>A
ENST00000375394.7:c.1110C>A MANE Select	ENSP00000364543.2:p.Phe370Leu
ENST00000375394.6:c.1110C>A	ENSP00000364543.2:p.Phe370Leu
ENST00000461073.5:c.*226C>A	ENSP00000419905.1:n.*226C>A
ENST00000465703.5:n.1423C>A
ENST00000466290.1:n.371C>A
ENST00000474839.5:c.*482C>A	ENSP00000420470.1:n.*482C>A
NM_006929.4:c.1110C>A	NP_008860.4:p.Phe370Leu
XM_006715168.2:c.1110C>A	XP_006715231.1:p.Phe370Leu
XM_011514815.1:c.1110C>A	XP_011513117.1:p.Phe370Leu
XR_926301.1:n.1198C>A
XM_011514815.3:c.1110C>A	XP_011513117.1:p.Phe370Leu
XR_001743586.2:n.1146C>A
XR_926301.3:n.1146C>A
NM_006929.5:c.1110C>A MANE Select	NP_008860.4:p.Phe370Leu