Canonical Allele Identifier: CA363491368

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937362C>G (hg19) ; chr6:g.31969585C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969585C>G , CM000668.2:g.31969585C>G	GRCh38
NC_000006.11:g.31937362C>G , CM000668.1:g.31937362C>G	GRCh37
NC_000006.10:g.32045341C>G	NCBI36
NG_032652.1:g.15782C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2659C>G	ENSP00000419905.1:n.*2659C>G
ENST00000485349.6:n.4087C>G
ENST00000491994.2:c.*153C>G	ENSP00000417586.2:n.*153C>G
ENST00000494058.6:n.3913C>G
ENST00000697831.1:c.3542C>G	ENSP00000513453.1:p.Ala1181Gly
ENST00000697832.1:n.3764C>G
ENST00000697833.1:c.*559C>G	ENSP00000513454.1:n.*559C>G
ENST00000697834.1:n.4329C>G
ENST00000697835.1:c.*3129C>G	ENSP00000513455.1:n.*3129C>G
ENST00000697836.1:n.3965C>G
ENST00000697837.1:c.*727C>G	ENSP00000513456.1:n.*727C>G
ENST00000697838.1:c.3476C>G	ENSP00000513457.1:p.Ala1159Gly
ENST00000697839.1:n.4423C>G
ENST00000697840.1:c.3647C>G	ENSP00000513458.1:p.Ala1216Gly
ENST00000697841.1:n.4522C>G
ENST00000697842.1:n.3866C>G
ENST00000375394.7:c.3611C>G MANE Select	ENSP00000364543.2:p.Ala1204Gly
ENST00000375394.6:c.3611C>G	ENSP00000364543.2:p.Ala1204Gly
ENST00000465703.5:n.4341C>G
ENST00000470453.1:n.453C>G
ENST00000471818.1:n.540C>G
ENST00000474839.5:c.*2983C>G	ENSP00000420470.1:n.*2983C>G
ENST00000483553.5:c.1141C>G
ENST00000491994.1:c.700C>G
NM_006929.4:c.3611C>G	NP_008860.4:p.Ala1204Gly
XR_926301.3:n.3627C>G
NM_006929.5:c.3611C>G MANE Select	NP_008860.4:p.Ala1204Gly