Canonical Allele Identifier: CA6128421

Gene: SPTBN2

Linked Data

• ClinVar Variation Id: 305551
• ClinVar RCV Id: RCV000296166 ; RCV000406616 ; RCV002056226
• dbSNP Id: rs199692345
• ExAC: 11:66460429 C / T
• gnomAD v2: 11-66460429-C-T
• gnomAD v3: 11-66692958-C-T
• gnomAD v4: 11-66692958-C-T
• MyVariant Identifiers: chr11:g.66460429C>T (hg19) ; chr11:g.66692958C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66692958C>T , CM000673.2:g.66692958C>T	GRCh38
NC_000011.9:g.66460429C>T , CM000673.1:g.66460429C>T	GRCh37
NC_000011.8:g.66217005C>T	NCBI36
NG_016150.1:g.33442G>A
NG_016150.2:g.41404G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309996.7:c.4985+12G>A	ENSP00000311489.2:n.4985+12G>A
ENST00000611817.5:c.4985+12G>A	ENSP00000480692.2:n.4985+12G>A
ENST00000617502.5:c.5006+12G>A	ENSP00000482000.2:n.5006+12G>A
ENST00000647510.2:c.4985+12G>A	ENSP00000508362.1:n.4985+12G>A
ENST00000533211.6:c.4985+12G>A MANE Select	ENSP00000432568.1:n.4985+12G>A
ENST00000647510.1:n.5512+12G>A
ENST00000309996.6:c.4985+12G>A	ENSP00000311489.2:n.4985+12G>A
ENST00000529997.5:c.4985+12G>A	ENSP00000433593.1:n.4985+12G>A
ENST00000533211.5:c.4985+12G>A	ENSP00000432568.1:n.4985+12G>A
ENST00000611817.4:c.1855-4297G>A	ENSP00000480692.1:n.1855-4297G>A
ENST00000617502.4:c.1846-3602G>A	ENSP00000482000.1:n.1846-3602G>A
NM_006946.2:c.4985+12G>A	NP_008877.1:n.4985+12G>A
XM_005274192.3:c.4985+12G>A	XP_005274249.1:n.4985+12G>A
XM_005274193.3:c.4985+12G>A	XP_005274250.1:n.4985+12G>A
XM_006718669.2:c.5006+12G>A	XP_006718732.1:n.5006+12G>A
XM_006718671.2:c.4985+12G>A	XP_006718734.1:n.4985+12G>A
NM_006946.3:c.4985+12G>A	NP_008877.1:n.4985+12G>A
XM_005274192.4:c.4985+12G>A	XP_005274249.1:n.4985+12G>A
XM_006718669.3:c.5006+12G>A	XP_006718732.1:n.5006+12G>A
XM_006718671.4:c.4985+12G>A	XP_006718734.1:n.4985+12G>A
XM_017018174.1:c.4985+12G>A	XP_016873663.1:n.4985+12G>A
XM_017018175.2:c.4985+12G>A	XP_016873664.1:n.4985+12G>A
XM_017018176.1:c.4985+12G>A	XP_016873665.1:n.4985+12G>A
XM_017018177.2:c.4985+12G>A	XP_016873666.1:n.4985+12G>A
XM_017018178.1:c.4985+12G>A	XP_016873667.1:n.4985+12G>A
NM_006946.4:c.4985+12G>A MANE Select	NP_008877.2:n.4985+12G>A