Canonical Allele Identifier: CA381471354

Gene: SPTBN2

Linked Data

• MyVariant Identifiers: chr11:g.66466168T>G (hg19) ; chr11:g.66698697T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66698697T>G , CM000673.2:g.66698697T>G	GRCh38
NC_000011.9:g.66466168T>G , CM000673.1:g.66466168T>G	GRCh37
NC_000011.8:g.66222744T>G	NCBI36
NG_016150.1:g.27703A>C
NG_016150.2:g.35665A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000309996.7:c.3956A>C	ENSP00000311489.2:p.His1319Pro
ENST00000611817.5:c.3956A>C	ENSP00000480692.2:p.His1319Pro
ENST00000617502.5:c.3977A>C	ENSP00000482000.2:p.His1326Pro
ENST00000647510.2:c.3956A>C	ENSP00000508362.1:p.His1319Pro
ENST00000682471.1:n.73A>C
ENST00000533211.6:c.3956A>C MANE Select	ENSP00000432568.1:p.His1319Pro
ENST00000647510.1:n.4483A>C
ENST00000309996.6:c.3956A>C	ENSP00000311489.2:p.His1319Pro
ENST00000529997.5:c.3956A>C	ENSP00000433593.1:p.His1319Pro
ENST00000530665.1:n.111A>C
ENST00000533211.5:c.3956A>C	ENSP00000432568.1:p.His1319Pro
ENST00000611817.4:c.1854+6725A>C	ENSP00000480692.1:n.1854+6725A>C
ENST00000617502.4:c.1845+6734A>C	ENSP00000482000.1:n.1845+6734A>C
NM_006946.2:c.3956A>C	NP_008877.1:p.His1319Pro
XM_005274192.3:c.3956A>C	XP_005274249.1:p.His1319Pro
XM_005274193.3:c.3956A>C	XP_005274250.1:p.His1319Pro
XM_006718669.2:c.3977A>C	XP_006718732.1:p.His1326Pro
XM_006718671.2:c.3956A>C	XP_006718734.1:p.His1319Pro
XM_011545216.1:c.3977A>C	XP_011543518.1:p.His1326Pro
XM_011545217.1:c.3977A>C	XP_011543519.1:p.His1326Pro
NM_006946.3:c.3956A>C	NP_008877.1:p.His1319Pro
XM_005274192.4:c.3956A>C	XP_005274249.1:p.His1319Pro
XM_006718669.3:c.3977A>C	XP_006718732.1:p.His1326Pro
XM_006718671.4:c.3956A>C	XP_006718734.1:p.His1319Pro
XM_011545216.3:c.3977A>C	XP_011543518.1:p.His1326Pro
XM_011545217.2:c.3977A>C	XP_011543519.1:p.His1326Pro
XM_017018174.1:c.3956A>C	XP_016873663.1:p.His1319Pro
XM_017018175.2:c.3956A>C	XP_016873664.1:p.His1319Pro
XM_017018176.1:c.3956A>C	XP_016873665.1:p.His1319Pro
XM_017018177.2:c.3956A>C	XP_016873666.1:p.His1319Pro
XM_017018178.1:c.3956A>C	XP_016873667.1:p.His1319Pro
NM_006946.4:c.3956A>C MANE Select	NP_008877.2:p.His1319Pro