Canonical Allele Identifier: CA205211
Gene: SPTBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 212300
dbSNP Id: rs797046006

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66715958T>C , CM000673.2:g.66715958T>C GRCh38
NC_000011.9:g.66483429T>C , CM000673.1:g.66483429T>C GRCh37
NC_000011.8:g.66240005T>C NCBI36
NG_016150.1:g.10442A>G
NG_016150.2:g.18404A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000309996.7:c.181A>G ENSP00000311489.2:p.Lys61Glu
ENST00000611817.5:c.181A>G ENSP00000480692.2:p.Lys61Glu
ENST00000617502.5:c.202A>G ENSP00000482000.2:p.Lys68Glu
ENST00000647510.2:c.181A>G ENSP00000508362.1:p.Lys61Glu
ENST00000533211.6:c.181A>G MANE Select ENSP00000432568.1:p.Lys61Glu
ENST00000647510.1:n.708A>G
ENST00000651232.1:c.202A>G ENSP00000499027.1:p.Lys68Glu
ENST00000309996.6:c.181A>G ENSP00000311489.2:p.Lys61Glu
ENST00000527010.1:c.181A>G ENSP00000433631.1:p.Lys61Glu
ENST00000529997.5:c.181A>G ENSP00000433593.1:p.Lys61Glu
ENST00000533211.5:c.181A>G ENSP00000432568.1:p.Lys61Glu
ENST00000611817.4:c.181A>G ENSP00000480692.1:p.Lys61Glu
ENST00000617502.4:c.181A>G ENSP00000482000.1:p.Lys61Glu
NM_006946.2:c.181A>G NP_008877.1:p.Lys61Glu
XM_005274192.3:c.181A>G XP_005274249.1:p.Lys61Glu
XM_005274193.3:c.181A>G XP_005274250.1:p.Lys61Glu
XM_006718669.2:c.202A>G XP_006718732.1:p.Lys68Glu
XM_006718671.2:c.181A>G XP_006718734.1:p.Lys61Glu
XM_011545216.1:c.202A>G XP_011543518.1:p.Lys68Glu
XM_011545217.1:c.202A>G XP_011543519.1:p.Lys68Glu
NM_006946.3:c.181A>G NP_008877.1:p.Lys61Glu
XM_005274192.4:c.181A>G XP_005274249.1:p.Lys61Glu
XM_006718669.3:c.202A>G XP_006718732.1:p.Lys68Glu
XM_006718671.4:c.181A>G XP_006718734.1:p.Lys61Glu
XM_011545216.3:c.202A>G XP_011543518.1:p.Lys68Glu
XM_011545217.2:c.202A>G XP_011543519.1:p.Lys68Glu
XM_017018174.1:c.181A>G XP_016873663.1:p.Lys61Glu
XM_017018175.2:c.181A>G XP_016873664.1:p.Lys61Glu
XM_017018176.1:c.181A>G XP_016873665.1:p.Lys61Glu
XM_017018177.2:c.181A>G XP_016873666.1:p.Lys61Glu
XM_017018178.1:c.181A>G XP_016873667.1:p.Lys61Glu
NM_006946.4:c.181A>G MANE Select NP_008877.2:p.Lys61Glu