Canonical Allele Identifier: CA224086383
Gene: SPTBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1912971
ClinVar RCV Id: RCV002593519
dbSNP Id: rs111407815

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66705479C>T , CM000673.2:g.66705479C>T GRCh38
NC_000011.9:g.66472950C>T , CM000673.1:g.66472950C>T GRCh37
NC_000011.8:g.66229526C>T NCBI36
NG_016150.1:g.20921G>A
NG_016150.2:g.28883G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000309996.7:c.1808-11G>A ENSP00000311489.2:n.1808-11G>A
ENST00000611817.5:c.1808-11G>A ENSP00000480692.2:n.1808-11G>A
ENST00000617502.5:c.1829-11G>A ENSP00000482000.2:n.1829-11G>A
ENST00000647510.2:c.1808-11G>A ENSP00000508362.1:n.1808-11G>A
ENST00000533211.6:c.1808-11G>A MANE Select ENSP00000432568.1:n.1808-11G>A
ENST00000647510.1:n.2335-11G>A
ENST00000309996.6:c.1808-11G>A ENSP00000311489.2:n.1808-11G>A
ENST00000529997.5:c.1808-11G>A ENSP00000433593.1:n.1808-11G>A
ENST00000533211.5:c.1808-11G>A ENSP00000432568.1:n.1808-11G>A
ENST00000611817.4:c.1808-11G>A ENSP00000480692.1:n.1808-11G>A
ENST00000617502.4:c.1808-11G>A ENSP00000482000.1:n.1808-11G>A
NM_006946.2:c.1808-11G>A NP_008877.1:n.1808-11G>A
XM_005274192.3:c.1808-11G>A XP_005274249.1:n.1808-11G>A
XM_005274193.3:c.1808-11G>A XP_005274250.1:n.1808-11G>A
XM_006718669.2:c.1829-11G>A XP_006718732.1:n.1829-11G>A
XM_006718671.2:c.1808-11G>A XP_006718734.1:n.1808-11G>A
XM_011545216.1:c.1829-11G>A XP_011543518.1:n.1829-11G>A
XM_011545217.1:c.1829-11G>A XP_011543519.1:n.1829-11G>A
NM_006946.3:c.1808-11G>A NP_008877.1:n.1808-11G>A
XM_005274192.4:c.1808-11G>A XP_005274249.1:n.1808-11G>A
XM_006718669.3:c.1829-11G>A XP_006718732.1:n.1829-11G>A
XM_006718671.4:c.1808-11G>A XP_006718734.1:n.1808-11G>A
XM_011545216.3:c.1829-11G>A XP_011543518.1:n.1829-11G>A
XM_011545217.2:c.1829-11G>A XP_011543519.1:n.1829-11G>A
XM_017018174.1:c.1808-11G>A XP_016873663.1:n.1808-11G>A
XM_017018175.2:c.1808-11G>A XP_016873664.1:n.1808-11G>A
XM_017018176.1:c.1808-11G>A XP_016873665.1:n.1808-11G>A
XM_017018177.2:c.1808-11G>A XP_016873666.1:n.1808-11G>A
XM_017018178.1:c.1808-11G>A XP_016873667.1:n.1808-11G>A
NM_006946.4:c.1808-11G>A MANE Select NP_008877.2:n.1808-11G>A