Canonical Allele Identifier: CA363491592

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937379C>A (hg19) ; chr6:g.31969602C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969602C>A , CM000668.2:g.31969602C>A	GRCh38
NC_000006.11:g.31937379C>A , CM000668.1:g.31937379C>A	GRCh37
NC_000006.10:g.32045358C>A	NCBI36
NG_032652.1:g.15799C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2676C>A	ENSP00000419905.1:n.*2676C>A
ENST00000485349.6:n.4104C>A
ENST00000491994.2:c.*170C>A	ENSP00000417586.2:n.*170C>A
ENST00000494058.6:n.3930C>A
ENST00000697831.1:c.3559C>A	ENSP00000513453.1:p.Leu1187Met
ENST00000697832.1:n.3781C>A
ENST00000697834.1:n.4346C>A
ENST00000697835.1:c.*3146C>A	ENSP00000513455.1:n.*3146C>A
ENST00000697836.1:n.3982C>A
ENST00000697837.1:c.*744C>A	ENSP00000513456.1:n.*744C>A
ENST00000697838.1:c.3493C>A	ENSP00000513457.1:p.Leu1165Met
ENST00000697839.1:n.4440C>A
ENST00000697840.1:c.3664C>A	ENSP00000513458.1:p.Leu1222Met
ENST00000697841.1:n.4539C>A
ENST00000697842.1:n.3883C>A
ENST00000375394.7:c.3628C>A MANE Select	ENSP00000364543.2:p.Leu1210Met
ENST00000375394.6:c.3628C>A	ENSP00000364543.2:p.Leu1210Met
ENST00000465703.5:n.4358C>A
ENST00000471818.1:n.557C>A
ENST00000474839.5:c.*3000C>A	ENSP00000420470.1:n.*3000C>A
ENST00000483553.5:c.1158C>A
ENST00000491994.1:c.717C>A
NM_006929.4:c.3628C>A	NP_008860.4:p.Leu1210Met
XR_926301.3:n.3644C>A
NM_006929.5:c.3628C>A MANE Select	NP_008860.4:p.Leu1210Met