Canonical Allele Identifier: CA6127669

Gene: SPTBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66686082C>T , CM000673.2:g.66686082C>T	GRCh38
NC_000011.9:g.66453553C>T , CM000673.1:g.66453553C>T	GRCh37
NC_000011.8:g.66210129C>T	NCBI36
NG_016150.1:g.40318G>A
NG_016150.2:g.48280G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006946.4:c.6962G>A MANE Select	NP_008877.2:p.Arg2321Gln
ENST00000533211.6:c.6962G>A MANE Select	ENSP00000432568.1:p.Arg2321Gln
NM_006946.2:c.6962G>A	NP_008877.1:p.Arg2321Gln
NM_006946.3:c.6962G>A	NP_008877.1:p.Arg2321Gln
ENST00000309996.6:c.6962G>A	ENSP00000311489.2:p.Arg2321Gln
ENST00000309996.7:c.6962G>A	ENSP00000311489.2:p.Arg2321Gln
ENST00000528051.1:n.143G>A
ENST00000529997.5:c.7255G>A	ENSP00000433593.1:n.7255G>A
ENST00000533211.5:c.6962G>A	ENSP00000432568.1:p.Arg2321Gln
ENST00000611817.4:c.2594G>A	ENSP00000480692.1:p.Arg865Gln
ENST00000611817.5:c.6962G>A	ENSP00000480692.2:p.Arg2321Gln
ENST00000617502.4:c.2594G>A	ENSP00000482000.1:p.Arg865Gln
ENST00000617502.5:c.6983G>A	ENSP00000482000.2:p.Arg2328Gln
ENST00000647510.1:n.7489G>A
ENST00000647510.2:c.6962G>A	ENSP00000508362.1:p.Arg2321Gln
XM_005274192.3:c.6962G>A	XP_005274249.1:p.Arg2321Gln
XM_005274192.4:c.6962G>A	XP_005274249.1:p.Arg2321Gln
XM_005274193.3:c.6962G>A	XP_005274250.1:p.Arg2321Gln
XM_006718669.2:c.6983G>A	XP_006718732.1:p.Arg2328Gln
XM_006718669.3:c.6983G>A	XP_006718732.1:p.Arg2328Gln
XM_006718671.2:c.6962G>A	XP_006718734.1:p.Arg2321Gln
XM_006718671.4:c.6962G>A	XP_006718734.1:p.Arg2321Gln
XM_017018174.1:c.6962G>A	XP_016873663.1:p.Arg2321Gln
XM_017018175.2:c.6962G>A	XP_016873664.1:p.Arg2321Gln
XM_017018176.1:c.6962G>A	XP_016873665.1:p.Arg2321Gln
XM_017018177.2:c.6962G>A	XP_016873666.1:p.Arg2321Gln
XM_017018178.1:c.6962G>A	XP_016873667.1:p.Arg2321Gln