Canonical Allele Identifier: CA363450291

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31930236T>A (hg19) ; chr6:g.31962459T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31962459T>A , CM000668.2:g.31962459T>A	GRCh38
NC_000006.11:g.31930236T>A , CM000668.1:g.31930236T>A	GRCh37
NC_000006.10:g.32038215T>A	NCBI36
NG_032652.1:g.8656T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*201T>A	ENSP00000419905.1:n.*201T>A
ENST00000483553.6:c.1085T>A	ENSP00000420332.2:p.Ile362Asn
ENST00000485349.6:n.1126T>A
ENST00000491994.2:c.1085T>A	ENSP00000417586.2:p.Ile362Asn
ENST00000494058.6:n.1142T>A
ENST00000697831.1:c.1085T>A	ENSP00000513453.1:p.Ile362Asn
ENST00000697832.1:n.1161T>A
ENST00000697833.1:c.1085T>A	ENSP00000513454.1:p.Ile362Asn
ENST00000697834.1:n.1137T>A
ENST00000697835.1:c.*603T>A	ENSP00000513455.1:n.*603T>A
ENST00000697836.1:n.1121T>A
ENST00000697837.1:c.1085T>A	ENSP00000513456.1:p.Ile362Asn
ENST00000697838.1:c.950T>A	ENSP00000513457.1:p.Ile317Asn
ENST00000697839.1:n.1368T>A
ENST00000697840.1:c.1121T>A	ENSP00000513458.1:p.Ile374Asn
ENST00000697841.1:n.1657T>A
ENST00000697842.1:n.1085T>A
ENST00000375394.7:c.1085T>A MANE Select	ENSP00000364543.2:p.Ile362Asn
ENST00000375394.6:c.1085T>A	ENSP00000364543.2:p.Ile362Asn
ENST00000461073.5:c.*201T>A	ENSP00000419905.1:n.*201T>A
ENST00000465703.5:n.1398T>A
ENST00000466290.1:n.346T>A
ENST00000474839.5:c.*457T>A	ENSP00000420470.1:n.*457T>A
NM_006929.4:c.1085T>A	NP_008860.4:p.Ile362Asn
XM_006715168.2:c.1085T>A	XP_006715231.1:p.Ile362Asn
XM_011514815.1:c.1085T>A	XP_011513117.1:p.Ile362Asn
XR_926301.1:n.1173T>A
XM_011514815.3:c.1085T>A	XP_011513117.1:p.Ile362Asn
XR_001743586.2:n.1121T>A
XR_926301.3:n.1121T>A
NM_006929.5:c.1085T>A MANE Select	NP_008860.4:p.Ile362Asn