Canonical Allele Identifier: CA363490757

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937305T>A (hg19) ; chr6:g.31969528T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969528T>A , CM000668.2:g.31969528T>A	GRCh38
NC_000006.11:g.31937305T>A , CM000668.1:g.31937305T>A	GRCh37
NC_000006.10:g.32045284T>A	NCBI36
NG_032652.1:g.15725T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2602T>A	ENSP00000419905.1:n.*2602T>A
ENST00000485349.6:n.4030T>A
ENST00000491994.2:c.*96T>A	ENSP00000417586.2:n.*96T>A
ENST00000494058.6:n.3856T>A
ENST00000697831.1:c.3485T>A	ENSP00000513453.1:p.Leu1162Ter
ENST00000697832.1:n.3707T>A
ENST00000697833.1:c.*502T>A	ENSP00000513454.1:n.*502T>A
ENST00000697834.1:n.4272T>A
ENST00000697835.1:c.*3072T>A	ENSP00000513455.1:n.*3072T>A
ENST00000697836.1:n.3908T>A
ENST00000697837.1:c.*670T>A	ENSP00000513456.1:n.*670T>A
ENST00000697838.1:c.3419T>A	ENSP00000513457.1:p.Leu1140Ter
ENST00000697839.1:n.4366T>A
ENST00000697840.1:c.3590T>A	ENSP00000513458.1:p.Leu1197Ter
ENST00000697841.1:n.4465T>A
ENST00000697842.1:n.3809T>A
ENST00000375394.7:c.3554T>A MANE Select	ENSP00000364543.2:p.Leu1185Ter
ENST00000375394.6:c.3554T>A	ENSP00000364543.2:p.Leu1185Ter
ENST00000465703.5:n.4284T>A
ENST00000470453.1:n.396T>A
ENST00000471818.1:n.483T>A
ENST00000474839.5:c.*2926T>A	ENSP00000420470.1:n.*2926T>A
ENST00000483553.5:c.1084T>A
ENST00000491994.1:c.643T>A
NM_006929.4:c.3554T>A	NP_008860.4:p.Leu1185Ter
XR_926301.3:n.3570T>A
NM_006929.5:c.3554T>A MANE Select	NP_008860.4:p.Leu1185Ter