Canonical Allele Identifier: CA6127851

Gene: SPTBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66687558G>A , CM000673.2:g.66687558G>A	GRCh38
NC_000011.9:g.66455029G>A , CM000673.1:g.66455029G>A	GRCh37
NC_000011.8:g.66211605G>A	NCBI36
NG_016150.1:g.38842C>T
NG_016150.2:g.46804C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006946.4:c.6591C>T MANE Select	NP_008877.2:p.Ser2197=
ENST00000533211.6:c.6591C>T MANE Select	ENSP00000432568.1:p.Ser2197=
NM_006946.2:c.6591C>T	NP_008877.1:p.Ser2197=
NM_006946.3:c.6591C>T	NP_008877.1:p.Ser2197=
ENST00000309996.6:c.6591C>T	ENSP00000311489.2:p.Ser2197=
ENST00000309996.7:c.6591C>T	ENSP00000311489.2:p.Ser2197=
ENST00000529997.5:c.6591C>T	ENSP00000433593.1:p.Ser2197=
ENST00000533211.5:c.6591C>T	ENSP00000432568.1:p.Ser2197=
ENST00000611817.4:c.2223C>T	ENSP00000480692.1:p.Ser741=
ENST00000611817.5:c.6591C>T	ENSP00000480692.2:p.Ser2197=
ENST00000617502.4:c.2223C>T	ENSP00000482000.1:p.Ser741=
ENST00000617502.5:c.6612C>T	ENSP00000482000.2:p.Ser2204=
ENST00000647510.1:n.7118C>T
ENST00000647510.2:c.6591C>T	ENSP00000508362.1:p.Ser2197=
XM_005274192.3:c.6591C>T	XP_005274249.1:p.Ser2197=
XM_005274192.4:c.6591C>T	XP_005274249.1:p.Ser2197=
XM_005274193.3:c.6591C>T	XP_005274250.1:p.Ser2197=
XM_006718669.2:c.6612C>T	XP_006718732.1:p.Ser2204=
XM_006718669.3:c.6612C>T	XP_006718732.1:p.Ser2204=
XM_006718671.2:c.6591C>T	XP_006718734.1:p.Ser2197=
XM_006718671.4:c.6591C>T	XP_006718734.1:p.Ser2197=
XM_017018174.1:c.6591C>T	XP_016873663.1:p.Ser2197=
XM_017018175.2:c.6591C>T	XP_016873664.1:p.Ser2197=
XM_017018176.1:c.6591C>T	XP_016873665.1:p.Ser2197=
XM_017018177.2:c.6591C>T	XP_016873666.1:p.Ser2197=
XM_017018178.1:c.6591C>T	XP_016873667.1:p.Ser2197=