Canonical Allele Identifier: CA6127807

Gene: SPTBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66687181G>A , CM000673.2:g.66687181G>A	GRCh38
NC_000011.9:g.66454652G>A , CM000673.1:g.66454652G>A	GRCh37
NC_000011.8:g.66211228G>A	NCBI36
NG_016150.1:g.39219C>T
NG_016150.2:g.47181C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006946.4:c.6723-14C>T MANE Select	NP_008877.2:n.6723-14C>T
ENST00000533211.6:c.6723-14C>T MANE Select	ENSP00000432568.1:n.6723-14C>T
NM_006946.2:c.6723-14C>T	NP_008877.1:n.6723-14C>T
NM_006946.3:c.6723-14C>T	NP_008877.1:n.6723-14C>T
ENST00000309996.6:c.6723-14C>T	ENSP00000311489.2:n.6723-14C>T
ENST00000309996.7:c.6723-14C>T	ENSP00000311489.2:n.6723-14C>T
ENST00000529997.5:c.6723-14C>T	ENSP00000433593.1:n.6723-14C>T
ENST00000530775.1:n.99-14C>T
ENST00000533211.5:c.6723-14C>T	ENSP00000432568.1:n.6723-14C>T
ENST00000611817.4:c.2355-14C>T	ENSP00000480692.1:n.2355-14C>T
ENST00000611817.5:c.6723-14C>T	ENSP00000480692.2:n.6723-14C>T
ENST00000617502.4:c.2355-14C>T	ENSP00000482000.1:n.2355-14C>T
ENST00000617502.5:c.6744-14C>T	ENSP00000482000.2:n.6744-14C>T
ENST00000647510.1:n.7250-14C>T
ENST00000647510.2:c.6723-14C>T	ENSP00000508362.1:n.6723-14C>T
XM_005274192.3:c.6723-14C>T	XP_005274249.1:n.6723-14C>T
XM_005274192.4:c.6723-14C>T	XP_005274249.1:n.6723-14C>T
XM_005274193.3:c.6723-14C>T	XP_005274250.1:n.6723-14C>T
XM_006718669.2:c.6744-14C>T	XP_006718732.1:n.6744-14C>T
XM_006718669.3:c.6744-14C>T	XP_006718732.1:n.6744-14C>T
XM_006718671.2:c.6723-14C>T	XP_006718734.1:n.6723-14C>T
XM_006718671.4:c.6723-14C>T	XP_006718734.1:n.6723-14C>T
XM_017018174.1:c.6723-14C>T	XP_016873663.1:n.6723-14C>T
XM_017018175.2:c.6723-14C>T	XP_016873664.1:n.6723-14C>T
XM_017018176.1:c.6723-14C>T	XP_016873665.1:n.6723-14C>T
XM_017018177.2:c.6723-14C>T	XP_016873666.1:n.6723-14C>T
XM_017018178.1:c.6723-14C>T	XP_016873667.1:n.6723-14C>T