Canonical Allele Identifier: CA363489958

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937137A>C (hg19) ; chr6:g.31969360A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969360A>C , CM000668.2:g.31969360A>C	GRCh38
NC_000006.11:g.31937137A>C , CM000668.1:g.31937137A>C	GRCh37
NC_000006.10:g.32045116A>C	NCBI36
NG_032652.1:g.15557A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2434A>C	ENSP00000419905.1:n.*2434A>C
ENST00000483553.6:c.*447A>C	ENSP00000420332.2:n.*447A>C
ENST00000485349.6:n.3956A>C
ENST00000491994.2:c.3480A>C	ENSP00000417586.2:p.Glu1160Asp
ENST00000494058.6:n.3782A>C
ENST00000697831.1:c.3411A>C	ENSP00000513453.1:p.Glu1137Asp
ENST00000697832.1:n.3633A>C
ENST00000697833.1:c.*428A>C	ENSP00000513454.1:n.*428A>C
ENST00000697834.1:n.4104A>C
ENST00000697835.1:c.*2998A>C	ENSP00000513455.1:n.*2998A>C
ENST00000697836.1:n.3811A>C
ENST00000697837.1:c.*596A>C	ENSP00000513456.1:n.*596A>C
ENST00000697838.1:c.3345A>C	ENSP00000513457.1:p.Glu1115Asp
ENST00000697839.1:n.4198A>C
ENST00000697840.1:c.3516A>C	ENSP00000513458.1:p.Glu1172Asp
ENST00000697841.1:n.4297A>C
ENST00000697842.1:n.3735A>C
ENST00000375394.7:c.3480A>C MANE Select	ENSP00000364543.2:p.Glu1160Asp
ENST00000375394.6:c.3480A>C	ENSP00000364543.2:p.Glu1160Asp
ENST00000465703.5:n.4116A>C
ENST00000470453.1:n.382+44A>C
ENST00000471818.1:n.409A>C
ENST00000474839.5:c.*2852A>C	ENSP00000420470.1:n.*2852A>C
ENST00000483553.5:c.916A>C
ENST00000485349.5:n.686A>C
ENST00000491994.1:c.475A>C
NM_006929.4:c.3480A>C	NP_008860.4:p.Glu1160Asp
XR_001743586.2:n.3579A>C
XR_926301.3:n.3496A>C
NM_006929.5:c.3480A>C MANE Select	NP_008860.4:p.Glu1160Asp