Canonical Allele Identifier: CA6129183

Gene: SPTBN2

Linked Data

• ClinVar Variation Id: 424113
• ClinVar RCV Id: RCV000485829 ; RCV003343857
• dbSNP Id: rs757150924
• ExAC: 11:66472586 G / A
• gnomAD v2: 11-66472586-G-A
• gnomAD v3: 11-66705115-G-A
• gnomAD v4: 11-66705115-G-A
• MyVariant Identifiers: chr11:g.66472586G>A (hg19) ; chr11:g.66705115G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66705115G>A , CM000673.2:g.66705115G>A	GRCh38
NC_000011.9:g.66472586G>A , CM000673.1:g.66472586G>A	GRCh37
NC_000011.8:g.66229162G>A	NCBI36
NG_016150.1:g.21285C>T
NG_016150.2:g.29247C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000309996.7:c.2161C>T	ENSP00000311489.2:p.Arg721Cys
ENST00000611817.5:c.2161C>T	ENSP00000480692.2:p.Arg721Cys
ENST00000617502.5:c.2182C>T	ENSP00000482000.2:p.Arg728Cys
ENST00000647510.2:c.2161C>T	ENSP00000508362.1:p.Arg721Cys
ENST00000533211.6:c.2161C>T MANE Select	ENSP00000432568.1:p.Arg721Cys
ENST00000647510.1:n.2688C>T
ENST00000309996.6:c.2161C>T	ENSP00000311489.2:p.Arg721Cys
ENST00000529997.5:c.2161C>T	ENSP00000433593.1:p.Arg721Cys
ENST00000533211.5:c.2161C>T	ENSP00000432568.1:p.Arg721Cys
ENST00000611817.4:c.1854+307C>T	ENSP00000480692.1:n.1854+307C>T
ENST00000617502.4:c.1845+316C>T	ENSP00000482000.1:n.1845+316C>T
NM_006946.2:c.2161C>T	NP_008877.1:p.Arg721Cys
XM_005274192.3:c.2161C>T	XP_005274249.1:p.Arg721Cys
XM_005274193.3:c.2161C>T	XP_005274250.1:p.Arg721Cys
XM_006718669.2:c.2182C>T	XP_006718732.1:p.Arg728Cys
XM_006718671.2:c.2161C>T	XP_006718734.1:p.Arg721Cys
XM_011545216.1:c.2182C>T	XP_011543518.1:p.Arg728Cys
XM_011545217.1:c.2182C>T	XP_011543519.1:p.Arg728Cys
NM_006946.3:c.2161C>T	NP_008877.1:p.Arg721Cys
XM_005274192.4:c.2161C>T	XP_005274249.1:p.Arg721Cys
XM_006718669.3:c.2182C>T	XP_006718732.1:p.Arg728Cys
XM_006718671.4:c.2161C>T	XP_006718734.1:p.Arg721Cys
XM_011545216.3:c.2182C>T	XP_011543518.1:p.Arg728Cys
XM_011545217.2:c.2182C>T	XP_011543519.1:p.Arg728Cys
XM_017018174.1:c.2161C>T	XP_016873663.1:p.Arg721Cys
XM_017018175.2:c.2161C>T	XP_016873664.1:p.Arg721Cys
XM_017018176.1:c.2161C>T	XP_016873665.1:p.Arg721Cys
XM_017018177.2:c.2161C>T	XP_016873666.1:p.Arg721Cys
XM_017018178.1:c.2161C>T	XP_016873667.1:p.Arg721Cys
NM_006946.4:c.2161C>T MANE Select	NP_008877.2:p.Arg721Cys