Canonical Allele Identifier: CA363490216

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937170G>C (hg19) ; chr6:g.31969393G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969393G>C , CM000668.2:g.31969393G>C	GRCh38
NC_000006.11:g.31937170G>C , CM000668.1:g.31937170G>C	GRCh37
NC_000006.10:g.32045149G>C	NCBI36
NG_032652.1:g.15590G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2467G>C	ENSP00000419905.1:n.*2467G>C
ENST00000483553.6:c.*480G>C	ENSP00000420332.2:n.*480G>C
ENST00000485349.6:n.3989G>C
ENST00000491994.2:c.3513G>C	ENSP00000417586.2:p.Glu1171Asp
ENST00000494058.6:n.3815G>C
ENST00000697831.1:c.3444G>C	ENSP00000513453.1:p.Glu1148Asp
ENST00000697832.1:n.3666G>C
ENST00000697833.1:c.*461G>C	ENSP00000513454.1:n.*461G>C
ENST00000697834.1:n.4137G>C
ENST00000697835.1:c.*3031G>C	ENSP00000513455.1:n.*3031G>C
ENST00000697836.1:n.3844G>C
ENST00000697837.1:c.*629G>C	ENSP00000513456.1:n.*629G>C
ENST00000697838.1:c.3378G>C	ENSP00000513457.1:p.Glu1126Asp
ENST00000697839.1:n.4231G>C
ENST00000697840.1:c.3549G>C	ENSP00000513458.1:p.Glu1183Asp
ENST00000697841.1:n.4330G>C
ENST00000697842.1:n.3768G>C
ENST00000375394.7:c.3513G>C MANE Select	ENSP00000364543.2:p.Glu1171Asp
ENST00000375394.6:c.3513G>C	ENSP00000364543.2:p.Glu1171Asp
ENST00000465703.5:n.4149G>C
ENST00000470453.1:n.382+77G>C
ENST00000471818.1:n.442G>C
ENST00000474839.5:c.*2885G>C	ENSP00000420470.1:n.*2885G>C
ENST00000483553.5:c.949G>C
ENST00000485349.5:n.719G>C
ENST00000491994.1:c.508G>C
NM_006929.4:c.3513G>C	NP_008860.4:p.Glu1171Asp
XR_001743586.2:n.3612G>C
XR_926301.3:n.3529G>C
NM_006929.5:c.3513G>C MANE Select	NP_008860.4:p.Glu1171Asp