Canonical Allele Identifier: CA381479527
Gene: SPTBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 488611
dbSNP Id: rs1554984881

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66705399A>G , CM000673.2:g.66705399A>G GRCh38
NC_000011.9:g.66472870A>G , CM000673.1:g.66472870A>G GRCh37
NC_000011.8:g.66229446A>G NCBI36
NG_016150.1:g.21001T>C
NG_016150.2:g.28963T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000309996.7:c.1877T>C ENSP00000311489.2:p.Leu626Pro
ENST00000611817.5:c.1877T>C ENSP00000480692.2:p.Leu626Pro
ENST00000617502.5:c.1898T>C ENSP00000482000.2:p.Leu633Pro
ENST00000647510.2:c.1877T>C ENSP00000508362.1:p.Leu626Pro
ENST00000533211.6:c.1877T>C MANE Select ENSP00000432568.1:p.Leu626Pro
ENST00000647510.1:n.2404T>C
ENST00000309996.6:c.1877T>C ENSP00000311489.2:p.Leu626Pro
ENST00000529997.5:c.1877T>C ENSP00000433593.1:p.Leu626Pro
ENST00000533211.5:c.1877T>C ENSP00000432568.1:p.Leu626Pro
ENST00000611817.4:c.1854+23T>C ENSP00000480692.1:n.1854+23T>C
ENST00000617502.4:c.1845+32T>C ENSP00000482000.1:n.1845+32T>C
NM_006946.2:c.1877T>C NP_008877.1:p.Leu626Pro
XM_005274192.3:c.1877T>C XP_005274249.1:p.Leu626Pro
XM_005274193.3:c.1877T>C XP_005274250.1:p.Leu626Pro
XM_006718669.2:c.1898T>C XP_006718732.1:p.Leu633Pro
XM_006718671.2:c.1877T>C XP_006718734.1:p.Leu626Pro
XM_011545216.1:c.1898T>C XP_011543518.1:p.Leu633Pro
XM_011545217.1:c.1898T>C XP_011543519.1:p.Leu633Pro
NM_006946.3:c.1877T>C NP_008877.1:p.Leu626Pro
XM_005274192.4:c.1877T>C XP_005274249.1:p.Leu626Pro
XM_006718669.3:c.1898T>C XP_006718732.1:p.Leu633Pro
XM_006718671.4:c.1877T>C XP_006718734.1:p.Leu626Pro
XM_011545216.3:c.1898T>C XP_011543518.1:p.Leu633Pro
XM_011545217.2:c.1898T>C XP_011543519.1:p.Leu633Pro
XM_017018174.1:c.1877T>C XP_016873663.1:p.Leu626Pro
XM_017018175.2:c.1877T>C XP_016873664.1:p.Leu626Pro
XM_017018176.1:c.1877T>C XP_016873665.1:p.Leu626Pro
XM_017018177.2:c.1877T>C XP_016873666.1:p.Leu626Pro
XM_017018178.1:c.1877T>C XP_016873667.1:p.Leu626Pro
NM_006946.4:c.1877T>C MANE Select NP_008877.2:p.Leu626Pro