Canonical Allele Identifier: CA363490066

Gene: SKIC2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2451A>G	ENSP00000419905.1:n.*2451A>G
ENST00000483553.6:c.*464A>G	ENSP00000420332.2:n.*464A>G
ENST00000485349.6:n.3973A>G
ENST00000491994.2:c.3497A>G	ENSP00000417586.2:p.Asn1166Ser
ENST00000494058.6:n.3799A>G
ENST00000697831.1:c.3428A>G	ENSP00000513453.1:p.Asn1143Ser
ENST00000697832.1:n.3650A>G
ENST00000697833.1:c.*445A>G	ENSP00000513454.1:n.*445A>G
ENST00000697834.1:n.4121A>G
ENST00000697835.1:c.*3015A>G	ENSP00000513455.1:n.*3015A>G
ENST00000697836.1:n.3828A>G
ENST00000697837.1:c.*613A>G	ENSP00000513456.1:n.*613A>G
ENST00000697838.1:c.3362A>G	ENSP00000513457.1:p.Asn1121Ser
ENST00000697839.1:n.4215A>G
ENST00000697840.1:c.3533A>G	ENSP00000513458.1:p.Asn1178Ser
ENST00000697841.1:n.4314A>G
ENST00000697842.1:n.3752A>G
ENST00000375394.7:c.3497A>G MANE Select	ENSP00000364543.2:p.Asn1166Ser
ENST00000375394.6:c.3497A>G	ENSP00000364543.2:p.Asn1166Ser
ENST00000465703.5:n.4133A>G
ENST00000470453.1:n.382+61A>G
ENST00000471818.1:n.426A>G
ENST00000474839.5:c.*2869A>G	ENSP00000420470.1:n.*2869A>G
ENST00000483553.5:c.933A>G
ENST00000485349.5:n.703A>G
ENST00000491994.1:c.492A>G
NM_006929.4:c.3497A>G	NP_008860.4:p.Asn1166Ser
XR_001743586.2:n.3596A>G
XR_926301.3:n.3513A>G
NM_006929.5:c.3497A>G MANE Select	NP_008860.4:p.Asn1166Ser