Canonical Allele Identifier: CA363491945

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937418G>A (hg19) ; chr6:g.31969641G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969641G>A , CM000668.2:g.31969641G>A	GRCh38
NC_000006.11:g.31937418G>A , CM000668.1:g.31937418G>A	GRCh37
NC_000006.10:g.32045397G>A	NCBI36
NG_032652.1:g.15838G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2715G>A	ENSP00000419905.1:n.*2715G>A
ENST00000485349.6:n.4143G>A
ENST00000491994.2:c.*209G>A	ENSP00000417586.2:n.*209G>A
ENST00000494058.6:n.3969G>A
ENST00000697831.1:c.3598G>A	ENSP00000513453.1:p.Gly1200Ser
ENST00000697832.1:n.3820G>A
ENST00000697834.1:n.4385G>A
ENST00000697835.1:c.*3185G>A	ENSP00000513455.1:n.*3185G>A
ENST00000697836.1:n.4021G>A
ENST00000697837.1:c.*783G>A	ENSP00000513456.1:n.*783G>A
ENST00000697838.1:c.3532G>A	ENSP00000513457.1:p.Gly1178Ser
ENST00000697839.1:n.4479G>A
ENST00000697840.1:c.3703G>A	ENSP00000513458.1:p.Gly1235Ser
ENST00000697841.1:n.4578G>A
ENST00000697842.1:n.3922G>A
ENST00000375394.7:c.3667G>A MANE Select	ENSP00000364543.2:p.Gly1223Ser
ENST00000375394.6:c.3667G>A	ENSP00000364543.2:p.Gly1223Ser
ENST00000465703.5:n.4397G>A
ENST00000471818.1:n.596G>A
ENST00000474839.5:c.*3039G>A	ENSP00000420470.1:n.*3039G>A
ENST00000483553.5:c.1197G>A
ENST00000491994.1:c.756G>A
NM_006929.4:c.3667G>A	NP_008860.4:p.Gly1223Ser
XR_926301.3:n.3683G>A
NM_006929.5:c.3667G>A MANE Select	NP_008860.4:p.Gly1223Ser