Canonical Allele Identifier: CA363491718

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937392C>A (hg19) ; chr6:g.31969615C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969615C>A , CM000668.2:g.31969615C>A	GRCh38
NC_000006.11:g.31937392C>A , CM000668.1:g.31937392C>A	GRCh37
NC_000006.10:g.32045371C>A	NCBI36
NG_032652.1:g.15812C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2689C>A	ENSP00000419905.1:n.*2689C>A
ENST00000485349.6:n.4117C>A
ENST00000491994.2:c.*183C>A	ENSP00000417586.2:n.*183C>A
ENST00000494058.6:n.3943C>A
ENST00000697831.1:c.3572C>A	ENSP00000513453.1:p.Ala1191Asp
ENST00000697832.1:n.3794C>A
ENST00000697834.1:n.4359C>A
ENST00000697835.1:c.*3159C>A	ENSP00000513455.1:n.*3159C>A
ENST00000697836.1:n.3995C>A
ENST00000697837.1:c.*757C>A	ENSP00000513456.1:n.*757C>A
ENST00000697838.1:c.3506C>A	ENSP00000513457.1:p.Ala1169Asp
ENST00000697839.1:n.4453C>A
ENST00000697840.1:c.3677C>A	ENSP00000513458.1:p.Ala1226Asp
ENST00000697841.1:n.4552C>A
ENST00000697842.1:n.3896C>A
ENST00000375394.7:c.3641C>A MANE Select	ENSP00000364543.2:p.Ala1214Asp
ENST00000375394.6:c.3641C>A	ENSP00000364543.2:p.Ala1214Asp
ENST00000465703.5:n.4371C>A
ENST00000471818.1:n.570C>A
ENST00000474839.5:c.*3013C>A	ENSP00000420470.1:n.*3013C>A
ENST00000483553.5:c.1171C>A
ENST00000491994.1:c.730C>A
NM_006929.4:c.3641C>A	NP_008860.4:p.Ala1214Asp
XR_926301.3:n.3657C>A
NM_006929.5:c.3641C>A MANE Select	NP_008860.4:p.Ala1214Asp