Canonical Allele Identifier: CA144692

Gene: SPTBN2

Linked Data

• ClinVar Variation Id: 64369
• ClinVar RCV Id: RCV000054555
• dbSNP Id: rs373728971
• MyVariant Identifiers: chr11:g.66468702_66468706del (hg19) ; chr11:g.66701231_66701235del (hg38)
• PubMed: PMID:23838597

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66701235_66701239del , CM000673.2:g.66701235_66701239del	GRCh38
NC_000011.9:g.66468706_66468710del , CM000673.1:g.66468706_66468710del	GRCh37
NC_000011.8:g.66225282_66225286del	NCBI36
NG_016150.1:g.25165_25169del
NG_016150.2:g.33127_33131del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309996.7:c.2864_2868del	ENSP00000311489.2:p.Thr955SerfsTer?
ENST00000611817.5:c.2864_2868del	ENSP00000480692.2:p.Thr955SerfsTer?
ENST00000617502.5:c.2885_2889del	ENSP00000482000.2:p.Thr962SerfsTer?
ENST00000647510.2:c.2864_2868del	ENSP00000508362.1:p.Thr955SerfsTer?
ENST00000533211.6:c.2864_2868del MANE Select	ENSP00000432568.1:p.Thr955SerfsTer?
ENST00000647510.1:n.3391_3395del
ENST00000309996.6:c.2864_2868del	ENSP00000311489.2:p.Thr955SerfsTer?
ENST00000529997.5:c.2864_2868del	ENSP00000433593.1:p.Thr955SerfsTer?
ENST00000533211.5:c.2864_2868del	ENSP00000432568.1:p.Thr955SerfsTer?
ENST00000611817.4:c.1854+4187_1854+4191del	ENSP00000480692.1:n.1854+4187_1854+4191del
ENST00000617502.4:c.1845+4196_1845+4200del	ENSP00000482000.1:n.1845+4196_1845+4200del
NM_006946.2:c.2864_2868del	NP_008877.1:p.Thr955SerfsTer?
XM_005274192.3:c.2864_2868del	XP_005274249.1:p.Thr955SerfsTer?
XM_005274193.3:c.2864_2868del	XP_005274250.1:p.Thr955SerfsTer?
XM_006718669.2:c.2885_2889del	XP_006718732.1:p.Thr962SerfsTer?
XM_006718671.2:c.2864_2868del	XP_006718734.1:p.Thr955SerfsTer?
XM_011545216.1:c.2885_2889del	XP_011543518.1:p.Thr962SerfsTer?
XM_011545217.1:c.2885_2889del	XP_011543519.1:p.Thr962SerfsTer?
NM_006946.3:c.2864_2868del	NP_008877.1:p.Thr955SerfsTer?
XM_005274192.4:c.2864_2868del	XP_005274249.1:p.Thr955SerfsTer?
XM_006718669.3:c.2885_2889del	XP_006718732.1:p.Thr962SerfsTer?
XM_006718671.4:c.2864_2868del	XP_006718734.1:p.Thr955SerfsTer?
XM_011545216.3:c.2885_2889del	XP_011543518.1:p.Thr962SerfsTer?
XM_011545217.2:c.2885_2889del	XP_011543519.1:p.Thr962SerfsTer?
XM_017018174.1:c.2864_2868del	XP_016873663.1:p.Thr955SerfsTer?
XM_017018175.2:c.2864_2868del	XP_016873664.1:p.Thr955SerfsTer?
XM_017018176.1:c.2864_2868del	XP_016873665.1:p.Thr955SerfsTer?
XM_017018177.2:c.2864_2868del	XP_016873666.1:p.Thr955SerfsTer?
XM_017018178.1:c.2864_2868del	XP_016873667.1:p.Thr955SerfsTer?
NM_006946.4:c.2864_2868del MANE Select	NP_008877.2:p.Thr955SerfsTer?