Canonical Allele Identifier: CA363490753

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937304T>A (hg19) ; chr6:g.31969527T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969527T>A , CM000668.2:g.31969527T>A	GRCh38
NC_000006.11:g.31937304T>A , CM000668.1:g.31937304T>A	GRCh37
NC_000006.10:g.32045283T>A	NCBI36
NG_032652.1:g.15724T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2601T>A	ENSP00000419905.1:n.*2601T>A
ENST00000485349.6:n.4029T>A
ENST00000491994.2:c.*95T>A	ENSP00000417586.2:n.*95T>A
ENST00000494058.6:n.3855T>A
ENST00000697831.1:c.3484T>A	ENSP00000513453.1:p.Leu1162Met
ENST00000697832.1:n.3706T>A
ENST00000697833.1:c.*501T>A	ENSP00000513454.1:n.*501T>A
ENST00000697834.1:n.4271T>A
ENST00000697835.1:c.*3071T>A	ENSP00000513455.1:n.*3071T>A
ENST00000697836.1:n.3907T>A
ENST00000697837.1:c.*669T>A	ENSP00000513456.1:n.*669T>A
ENST00000697838.1:c.3418T>A	ENSP00000513457.1:p.Leu1140Met
ENST00000697839.1:n.4365T>A
ENST00000697840.1:c.3589T>A	ENSP00000513458.1:p.Leu1197Met
ENST00000697841.1:n.4464T>A
ENST00000697842.1:n.3808T>A
ENST00000375394.7:c.3553T>A MANE Select	ENSP00000364543.2:p.Leu1185Met
ENST00000375394.6:c.3553T>A	ENSP00000364543.2:p.Leu1185Met
ENST00000465703.5:n.4283T>A
ENST00000470453.1:n.395T>A
ENST00000471818.1:n.482T>A
ENST00000474839.5:c.*2925T>A	ENSP00000420470.1:n.*2925T>A
ENST00000483553.5:c.1083T>A
ENST00000491994.1:c.642T>A
NM_006929.4:c.3553T>A	NP_008860.4:p.Leu1185Met
XR_926301.3:n.3569T>A
NM_006929.5:c.3553T>A MANE Select	NP_008860.4:p.Leu1185Met