Canonical Allele Identifier: CA241619

Gene: SPTBN2

Linked Data

• ClinVar Variation Id: 195271
• ClinVar RCV Id: RCV000612761 ; RCV000713027 ; RCV001103772
• dbSNP Id: rs150159444
• ExAC: 11:66488550 C / T
• gnomAD v2: 11-66488550-C-T
• gnomAD v3: 11-66721079-C-T
• gnomAD v4: 11-66721079-C-T
• MyVariant Identifiers: chr11:g.66488550C>T (hg19) ; chr11:g.66721079C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66721079C>T , CM000673.2:g.66721079C>T	GRCh38
NC_000011.9:g.66488550C>T , CM000673.1:g.66488550C>T	GRCh37
NC_000011.8:g.66245126C>T	NCBI36
NG_016150.1:g.5321G>A
NG_016150.2:g.13283G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309996.7:c.157+5G>A	ENSP00000311489.2:n.157+5G>A
ENST00000611817.5:c.157+5G>A	ENSP00000480692.2:n.157+5G>A
ENST00000647510.2:c.157+5G>A	ENSP00000508362.1:n.157+5G>A
ENST00000533211.6:c.157+5G>A MANE Select	ENSP00000432568.1:n.157+5G>A
ENST00000647510.1:n.684+5G>A
ENST00000309996.6:c.157+5G>A	ENSP00000311489.2:n.157+5G>A
ENST00000527010.1:c.157+5G>A	ENSP00000433631.1:n.157+5G>A
ENST00000529997.5:c.157+5G>A	ENSP00000433593.1:n.157+5G>A
ENST00000533211.5:c.157+5G>A	ENSP00000432568.1:n.157+5G>A
ENST00000611817.4:c.157+5G>A	ENSP00000480692.1:n.157+5G>A
ENST00000617502.4:c.157+5G>A	ENSP00000482000.1:n.157+5G>A
NM_006946.2:c.157+5G>A	NP_008877.1:n.157+5G>A
XM_005274192.3:c.157+5G>A	XP_005274249.1:n.157+5G>A
XM_005274193.3:c.157+5G>A	XP_005274250.1:n.157+5G>A
XM_006718671.2:c.157+5G>A	XP_006718734.1:n.157+5G>A
NM_006946.3:c.157+5G>A	NP_008877.1:n.157+5G>A
XM_005274192.4:c.157+5G>A	XP_005274249.1:n.157+5G>A
XM_006718671.4:c.157+5G>A	XP_006718734.1:n.157+5G>A
XM_017018174.1:c.157+5G>A	XP_016873663.1:n.157+5G>A
XM_017018175.2:c.157+5G>A	XP_016873664.1:n.157+5G>A
XM_017018176.1:c.157+5G>A	XP_016873665.1:n.157+5G>A
XM_017018177.2:c.157+5G>A	XP_016873666.1:n.157+5G>A
XM_017018178.1:c.157+5G>A	XP_016873667.1:n.157+5G>A
NM_006946.4:c.157+5G>A MANE Select	NP_008877.2:n.157+5G>A