Canonical Allele Identifier: CA363489774

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937109C>A (hg19) ; chr6:g.31969332C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969332C>A , CM000668.2:g.31969332C>A	GRCh38
NC_000006.11:g.31937109C>A , CM000668.1:g.31937109C>A	GRCh37
NC_000006.10:g.32045088C>A	NCBI36
NG_032652.1:g.15529C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2406C>A	ENSP00000419905.1:n.*2406C>A
ENST00000483553.6:c.*419C>A	ENSP00000420332.2:n.*419C>A
ENST00000485349.6:n.3928C>A
ENST00000491994.2:c.3452C>A	ENSP00000417586.2:p.Ala1151Asp
ENST00000494058.6:n.3754C>A
ENST00000697831.1:c.3383C>A	ENSP00000513453.1:p.Ala1128Asp
ENST00000697832.1:n.3605C>A
ENST00000697833.1:c.*400C>A	ENSP00000513454.1:n.*400C>A
ENST00000697834.1:n.4076C>A
ENST00000697835.1:c.*2970C>A	ENSP00000513455.1:n.*2970C>A
ENST00000697836.1:n.3783C>A
ENST00000697837.1:c.*568C>A	ENSP00000513456.1:n.*568C>A
ENST00000697838.1:c.3317C>A	ENSP00000513457.1:p.Ala1106Asp
ENST00000697839.1:n.4170C>A
ENST00000697840.1:c.3488C>A	ENSP00000513458.1:p.Ala1163Asp
ENST00000697841.1:n.4269C>A
ENST00000697842.1:n.3707C>A
ENST00000375394.7:c.3452C>A MANE Select	ENSP00000364543.2:p.Ala1151Asp
ENST00000375394.6:c.3452C>A	ENSP00000364543.2:p.Ala1151Asp
ENST00000465703.5:n.4088C>A
ENST00000470453.1:n.382+16C>A
ENST00000471818.1:n.381C>A
ENST00000474839.5:c.*2824C>A	ENSP00000420470.1:n.*2824C>A
ENST00000483553.5:c.888C>A
ENST00000485349.5:n.658C>A
ENST00000491994.1:c.447C>A
NM_006929.4:c.3452C>A	NP_008860.4:p.Ala1151Asp
XR_001743586.2:n.3551C>A
XR_926301.3:n.3468C>A
NM_006929.5:c.3452C>A MANE Select	NP_008860.4:p.Ala1151Asp