Canonical Allele Identifier: CA363490762

Gene: SKIC2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2602T>C	ENSP00000419905.1:n.*2602T>C
ENST00000485349.6:n.4030T>C
ENST00000491994.2:c.*96T>C	ENSP00000417586.2:n.*96T>C
ENST00000494058.6:n.3856T>C
ENST00000697831.1:c.3485T>C	ENSP00000513453.1:p.Leu1162Ser
ENST00000697832.1:n.3707T>C
ENST00000697833.1:c.*502T>C	ENSP00000513454.1:n.*502T>C
ENST00000697834.1:n.4272T>C
ENST00000697835.1:c.*3072T>C	ENSP00000513455.1:n.*3072T>C
ENST00000697836.1:n.3908T>C
ENST00000697837.1:c.*670T>C	ENSP00000513456.1:n.*670T>C
ENST00000697838.1:c.3419T>C	ENSP00000513457.1:p.Leu1140Ser
ENST00000697839.1:n.4366T>C
ENST00000697840.1:c.3590T>C	ENSP00000513458.1:p.Leu1197Ser
ENST00000697841.1:n.4465T>C
ENST00000697842.1:n.3809T>C
ENST00000375394.7:c.3554T>C MANE Select	ENSP00000364543.2:p.Leu1185Ser
ENST00000375394.6:c.3554T>C	ENSP00000364543.2:p.Leu1185Ser
ENST00000465703.5:n.4284T>C
ENST00000470453.1:n.396T>C
ENST00000471818.1:n.483T>C
ENST00000474839.5:c.*2926T>C	ENSP00000420470.1:n.*2926T>C
ENST00000483553.5:c.1084T>C
ENST00000491994.1:c.643T>C
NM_006929.4:c.3554T>C	NP_008860.4:p.Leu1185Ser
XR_926301.3:n.3570T>C
NM_006929.5:c.3554T>C MANE Select	NP_008860.4:p.Leu1185Ser