Canonical Allele Identifier: CA363491077

Gene: SKIC2

Linked Data

• MyVariant Identifiers: chr6:g.31937330G>T (hg19) ; chr6:g.31969553G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31969553G>T , CM000668.2:g.31969553G>T	GRCh38
NC_000006.11:g.31937330G>T , CM000668.1:g.31937330G>T	GRCh37
NC_000006.10:g.32045309G>T	NCBI36
NG_032652.1:g.15750G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461073.6:c.*2627G>T	ENSP00000419905.1:n.*2627G>T
ENST00000485349.6:n.4055G>T
ENST00000491994.2:c.*121G>T	ENSP00000417586.2:n.*121G>T
ENST00000494058.6:n.3881G>T
ENST00000697831.1:c.3510G>T	ENSP00000513453.1:p.Glu1170Asp
ENST00000697832.1:n.3732G>T
ENST00000697833.1:c.*527G>T	ENSP00000513454.1:n.*527G>T
ENST00000697834.1:n.4297G>T
ENST00000697835.1:c.*3097G>T	ENSP00000513455.1:n.*3097G>T
ENST00000697836.1:n.3933G>T
ENST00000697837.1:c.*695G>T	ENSP00000513456.1:n.*695G>T
ENST00000697838.1:c.3444G>T	ENSP00000513457.1:p.Glu1148Asp
ENST00000697839.1:n.4391G>T
ENST00000697840.1:c.3615G>T	ENSP00000513458.1:p.Glu1205Asp
ENST00000697841.1:n.4490G>T
ENST00000697842.1:n.3834G>T
ENST00000375394.7:c.3579G>T MANE Select	ENSP00000364543.2:p.Glu1193Asp
ENST00000375394.6:c.3579G>T	ENSP00000364543.2:p.Glu1193Asp
ENST00000465703.5:n.4309G>T
ENST00000470453.1:n.421G>T
ENST00000471818.1:n.508G>T
ENST00000474839.5:c.*2951G>T	ENSP00000420470.1:n.*2951G>T
ENST00000483553.5:c.1109G>T
ENST00000491994.1:c.668G>T
NM_006929.4:c.3579G>T	NP_008860.4:p.Glu1193Asp
XR_926301.3:n.3595G>T
NM_006929.5:c.3579G>T MANE Select	NP_008860.4:p.Glu1193Asp