Canonical Allele Identifier: CA363490197

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937169A>C (hg19) ; chr6:g.31969392A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969392A>C , CM000668.2:g.31969392A>C	GRCh38
NC_000006.11:g.31937169A>C , CM000668.1:g.31937169A>C	GRCh37
NC_000006.10:g.32045148A>C	NCBI36
NG_032652.1:g.15589A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2466A>C	ENSP00000419905.1:n.*2466A>C
ENST00000483553.6:c.*479A>C	ENSP00000420332.2:n.*479A>C
ENST00000485349.6:n.3988A>C
ENST00000491994.2:c.3512A>C	ENSP00000417586.2:p.Glu1171Ala
ENST00000494058.6:n.3814A>C
ENST00000697831.1:c.3443A>C	ENSP00000513453.1:p.Glu1148Ala
ENST00000697832.1:n.3665A>C
ENST00000697833.1:c.*460A>C	ENSP00000513454.1:n.*460A>C
ENST00000697834.1:n.4136A>C
ENST00000697835.1:c.*3030A>C	ENSP00000513455.1:n.*3030A>C
ENST00000697836.1:n.3843A>C
ENST00000697837.1:c.*628A>C	ENSP00000513456.1:n.*628A>C
ENST00000697838.1:c.3377A>C	ENSP00000513457.1:p.Glu1126Ala
ENST00000697839.1:n.4230A>C
ENST00000697840.1:c.3548A>C	ENSP00000513458.1:p.Glu1183Ala
ENST00000697841.1:n.4329A>C
ENST00000697842.1:n.3767A>C
ENST00000375394.7:c.3512A>C MANE Select	ENSP00000364543.2:p.Glu1171Ala
ENST00000375394.6:c.3512A>C	ENSP00000364543.2:p.Glu1171Ala
ENST00000465703.5:n.4148A>C
ENST00000470453.1:n.382+76A>C
ENST00000471818.1:n.441A>C
ENST00000474839.5:c.*2884A>C	ENSP00000420470.1:n.*2884A>C
ENST00000483553.5:c.948A>C
ENST00000485349.5:n.718A>C
ENST00000491994.1:c.507A>C
NM_006929.4:c.3512A>C	NP_008860.4:p.Glu1171Ala
XR_001743586.2:n.3611A>C
XR_926301.3:n.3528A>C
NM_006929.5:c.3512A>C MANE Select	NP_008860.4:p.Glu1171Ala