Canonical Allele Identifier: CA363490060

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937154A>C (hg19) ; chr6:g.31969377A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969377A>C , CM000668.2:g.31969377A>C	GRCh38
NC_000006.11:g.31937154A>C , CM000668.1:g.31937154A>C	GRCh37
NC_000006.10:g.32045133A>C	NCBI36
NG_032652.1:g.15574A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2451A>C	ENSP00000419905.1:n.*2451A>C
ENST00000483553.6:c.*464A>C	ENSP00000420332.2:n.*464A>C
ENST00000485349.6:n.3973A>C
ENST00000491994.2:c.3497A>C	ENSP00000417586.2:p.Asn1166Thr
ENST00000494058.6:n.3799A>C
ENST00000697831.1:c.3428A>C	ENSP00000513453.1:p.Asn1143Thr
ENST00000697832.1:n.3650A>C
ENST00000697833.1:c.*445A>C	ENSP00000513454.1:n.*445A>C
ENST00000697834.1:n.4121A>C
ENST00000697835.1:c.*3015A>C	ENSP00000513455.1:n.*3015A>C
ENST00000697836.1:n.3828A>C
ENST00000697837.1:c.*613A>C	ENSP00000513456.1:n.*613A>C
ENST00000697838.1:c.3362A>C	ENSP00000513457.1:p.Asn1121Thr
ENST00000697839.1:n.4215A>C
ENST00000697840.1:c.3533A>C	ENSP00000513458.1:p.Asn1178Thr
ENST00000697841.1:n.4314A>C
ENST00000697842.1:n.3752A>C
ENST00000375394.7:c.3497A>C MANE Select	ENSP00000364543.2:p.Asn1166Thr
ENST00000375394.6:c.3497A>C	ENSP00000364543.2:p.Asn1166Thr
ENST00000465703.5:n.4133A>C
ENST00000470453.1:n.382+61A>C
ENST00000471818.1:n.426A>C
ENST00000474839.5:c.*2869A>C	ENSP00000420470.1:n.*2869A>C
ENST00000483553.5:c.933A>C
ENST00000485349.5:n.703A>C
ENST00000491994.1:c.492A>C
NM_006929.4:c.3497A>C	NP_008860.4:p.Asn1166Thr
XR_001743586.2:n.3596A>C
XR_926301.3:n.3513A>C
NM_006929.5:c.3497A>C MANE Select	NP_008860.4:p.Asn1166Thr