Canonical Allele Identifier: CA6128257

Gene: SPTBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66691354A>C , CM000673.2:g.66691354A>C	GRCh38
NC_000011.9:g.66458825A>C , CM000673.1:g.66458825A>C	GRCh37
NC_000011.8:g.66215401A>C	NCBI36
NG_016150.1:g.35046T>G
NG_016150.2:g.43008T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006946.4:c.5495T>G MANE Select	NP_008877.2:p.Leu1832Arg
ENST00000533211.6:c.5495T>G MANE Select	ENSP00000432568.1:p.Leu1832Arg
NM_006946.2:c.5495T>G	NP_008877.1:p.Leu1832Arg
NM_006946.3:c.5495T>G	NP_008877.1:p.Leu1832Arg
ENST00000309996.6:c.5495T>G	ENSP00000311489.2:p.Leu1832Arg
ENST00000309996.7:c.5495T>G	ENSP00000311489.2:p.Leu1832Arg
ENST00000529997.5:c.5495T>G	ENSP00000433593.1:p.Leu1832Arg
ENST00000533211.5:c.5495T>G	ENSP00000432568.1:p.Leu1832Arg
ENST00000611817.4:c.1855-2693T>G	ENSP00000480692.1:n.1855-2693T>G
ENST00000611817.5:c.5495T>G	ENSP00000480692.2:p.Leu1832Arg
ENST00000617502.4:c.1846-1998T>G	ENSP00000482000.1:n.1846-1998T>G
ENST00000617502.5:c.5516T>G	ENSP00000482000.2:p.Leu1839Arg
ENST00000647510.1:n.6022T>G
ENST00000647510.2:c.5495T>G	ENSP00000508362.1:p.Leu1832Arg
XM_005274192.3:c.5495T>G	XP_005274249.1:p.Leu1832Arg
XM_005274192.4:c.5495T>G	XP_005274249.1:p.Leu1832Arg
XM_005274193.3:c.5495T>G	XP_005274250.1:p.Leu1832Arg
XM_006718669.2:c.5516T>G	XP_006718732.1:p.Leu1839Arg
XM_006718669.3:c.5516T>G	XP_006718732.1:p.Leu1839Arg
XM_006718671.2:c.5495T>G	XP_006718734.1:p.Leu1832Arg
XM_006718671.4:c.5495T>G	XP_006718734.1:p.Leu1832Arg
XM_017018174.1:c.5495T>G	XP_016873663.1:p.Leu1832Arg
XM_017018175.2:c.5495T>G	XP_016873664.1:p.Leu1832Arg
XM_017018176.1:c.5495T>G	XP_016873665.1:p.Leu1832Arg
XM_017018177.2:c.5495T>G	XP_016873666.1:p.Leu1832Arg
XM_017018178.1:c.5495T>G	XP_016873667.1:p.Leu1832Arg