Canonical Allele Identifier: CA144690

Gene: SPTBN2

Linked Data

• ClinVar Variation Id: 64367
• ClinVar RCV Id: RCV000054553
• dbSNP Id: rs146859515
• MyVariant Identifiers: chr11:g.66472866G>T (hg19) ; chr11:g.66705395G>T (hg38)
• PubMed: PMID:23236289

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66705395G>T , CM000673.2:g.66705395G>T	GRCh38
NC_000011.9:g.66472866G>T , CM000673.1:g.66472866G>T	GRCh37
NC_000011.8:g.66229442G>T	NCBI36
NG_016150.1:g.21005C>A
NG_016150.2:g.28967C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000309996.7:c.1881C>A	ENSP00000311489.2:p.Cys627Ter
ENST00000611817.5:c.1881C>A	ENSP00000480692.2:p.Cys627Ter
ENST00000617502.5:c.1902C>A	ENSP00000482000.2:p.Cys634Ter
ENST00000647510.2:c.1881C>A	ENSP00000508362.1:p.Cys627Ter
ENST00000533211.6:c.1881C>A MANE Select	ENSP00000432568.1:p.Cys627Ter
ENST00000647510.1:n.2408C>A
ENST00000309996.6:c.1881C>A	ENSP00000311489.2:p.Cys627Ter
ENST00000529997.5:c.1881C>A	ENSP00000433593.1:p.Cys627Ter
ENST00000533211.5:c.1881C>A	ENSP00000432568.1:p.Cys627Ter
ENST00000611817.4:c.1854+27C>A	ENSP00000480692.1:n.1854+27C>A
ENST00000617502.4:c.1845+36C>A	ENSP00000482000.1:n.1845+36C>A
NM_006946.2:c.1881C>A	NP_008877.1:p.Cys627Ter
XM_005274192.3:c.1881C>A	XP_005274249.1:p.Cys627Ter
XM_005274193.3:c.1881C>A	XP_005274250.1:p.Cys627Ter
XM_006718669.2:c.1902C>A	XP_006718732.1:p.Cys634Ter
XM_006718671.2:c.1881C>A	XP_006718734.1:p.Cys627Ter
XM_011545216.1:c.1902C>A	XP_011543518.1:p.Cys634Ter
XM_011545217.1:c.1902C>A	XP_011543519.1:p.Cys634Ter
NM_006946.3:c.1881C>A	NP_008877.1:p.Cys627Ter
XM_005274192.4:c.1881C>A	XP_005274249.1:p.Cys627Ter
XM_006718669.3:c.1902C>A	XP_006718732.1:p.Cys634Ter
XM_006718671.4:c.1881C>A	XP_006718734.1:p.Cys627Ter
XM_011545216.3:c.1902C>A	XP_011543518.1:p.Cys634Ter
XM_011545217.2:c.1902C>A	XP_011543519.1:p.Cys634Ter
XM_017018174.1:c.1881C>A	XP_016873663.1:p.Cys627Ter
XM_017018175.2:c.1881C>A	XP_016873664.1:p.Cys627Ter
XM_017018176.1:c.1881C>A	XP_016873665.1:p.Cys627Ter
XM_017018177.2:c.1881C>A	XP_016873666.1:p.Cys627Ter
XM_017018178.1:c.1881C>A	XP_016873667.1:p.Cys627Ter
NM_006946.4:c.1881C>A MANE Select	NP_008877.2:p.Cys627Ter