Canonical Allele Identifier: CA363491873

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937408G>C (hg19) ; chr6:g.31969631G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969631G>C , CM000668.2:g.31969631G>C	GRCh38
NC_000006.11:g.31937408G>C , CM000668.1:g.31937408G>C	GRCh37
NC_000006.10:g.32045387G>C	NCBI36
NG_032652.1:g.15828G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2705G>C	ENSP00000419905.1:n.*2705G>C
ENST00000485349.6:n.4133G>C
ENST00000491994.2:c.*199G>C	ENSP00000417586.2:n.*199G>C
ENST00000494058.6:n.3959G>C
ENST00000697831.1:c.3588G>C	ENSP00000513453.1:p.Glu1196Asp
ENST00000697832.1:n.3810G>C
ENST00000697834.1:n.4375G>C
ENST00000697835.1:c.*3175G>C	ENSP00000513455.1:n.*3175G>C
ENST00000697836.1:n.4011G>C
ENST00000697837.1:c.*773G>C	ENSP00000513456.1:n.*773G>C
ENST00000697838.1:c.3522G>C	ENSP00000513457.1:p.Glu1174Asp
ENST00000697839.1:n.4469G>C
ENST00000697840.1:c.3693G>C	ENSP00000513458.1:p.Glu1231Asp
ENST00000697841.1:n.4568G>C
ENST00000697842.1:n.3912G>C
ENST00000375394.7:c.3657G>C MANE Select	ENSP00000364543.2:p.Glu1219Asp
ENST00000375394.6:c.3657G>C	ENSP00000364543.2:p.Glu1219Asp
ENST00000465703.5:n.4387G>C
ENST00000471818.1:n.586G>C
ENST00000474839.5:c.*3029G>C	ENSP00000420470.1:n.*3029G>C
ENST00000483553.5:c.1187G>C
ENST00000491994.1:c.746G>C
NM_006929.4:c.3657G>C	NP_008860.4:p.Glu1219Asp
XR_926301.3:n.3673G>C
NM_006929.5:c.3657G>C MANE Select	NP_008860.4:p.Glu1219Asp