Canonical Allele Identifier: CA136914438

Gene: SKIC2

Linked Data

• dbSNP Id: rs2734329
• MyVariant Identifiers: chr6:g.31937114G>C (hg19) ; chr6:g.31969337G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969337G>C , CM000668.2:g.31969337G>C	GRCh38
NC_000006.11:g.31937114G>C , CM000668.1:g.31937114G>C	GRCh37
NC_000006.10:g.32045093G>C	NCBI36
NG_032652.1:g.15534G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2411G>C	ENSP00000419905.1:n.*2411G>C
ENST00000483553.6:c.*424G>C	ENSP00000420332.2:n.*424G>C
ENST00000485349.6:n.3933G>C
ENST00000491994.2:c.3457G>C	ENSP00000417586.2:p.Gly1153Arg
ENST00000494058.6:n.3759G>C
ENST00000697831.1:c.3388G>C	ENSP00000513453.1:p.Gly1130Arg
ENST00000697832.1:n.3610G>C
ENST00000697833.1:c.*405G>C	ENSP00000513454.1:n.*405G>C
ENST00000697834.1:n.4081G>C
ENST00000697835.1:c.*2975G>C	ENSP00000513455.1:n.*2975G>C
ENST00000697836.1:n.3788G>C
ENST00000697837.1:c.*573G>C	ENSP00000513456.1:n.*573G>C
ENST00000697838.1:c.3322G>C	ENSP00000513457.1:p.Gly1108Arg
ENST00000697839.1:n.4175G>C
ENST00000697840.1:c.3493G>C	ENSP00000513458.1:p.Gly1165Arg
ENST00000697841.1:n.4274G>C
ENST00000697842.1:n.3712G>C
ENST00000375394.7:c.3457G>C MANE Select	ENSP00000364543.2:p.Gly1153Arg
ENST00000375394.6:c.3457G>C	ENSP00000364543.2:p.Gly1153Arg
ENST00000465703.5:n.4093G>C
ENST00000470453.1:n.382+21G>C
ENST00000471818.1:n.386G>C
ENST00000474839.5:c.*2829G>C	ENSP00000420470.1:n.*2829G>C
ENST00000483553.5:c.893G>C
ENST00000485349.5:n.663G>C
ENST00000491994.1:c.452G>C
NM_006929.4:c.3457G>C	NP_008860.4:p.Gly1153Arg
XR_001743586.2:n.3556G>C
XR_926301.3:n.3473G>C
NM_006929.5:c.3457G>C MANE Select	NP_008860.4:p.Gly1153Arg