Canonical Allele Identifier: CA6129232

Gene: SPTBN2

Linked Data

• dbSNP Id: rs770009845
• ExAC: 11:66472886 G / C
• gnomAD v2: 11-66472886-G-C
• gnomAD v4: 11-66705415-G-C
• MyVariant Identifiers: chr11:g.66472886G>C (hg19) ; chr11:g.66705415G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66705415G>C , CM000673.2:g.66705415G>C	GRCh38
NC_000011.9:g.66472886G>C , CM000673.1:g.66472886G>C	GRCh37
NC_000011.8:g.66229462G>C	NCBI36
NG_016150.1:g.20985C>G
NG_016150.2:g.28947C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309996.7:c.1861C>G	ENSP00000311489.2:p.Gln621Glu
ENST00000611817.5:c.1861C>G	ENSP00000480692.2:p.Gln621Glu
ENST00000617502.5:c.1882C>G	ENSP00000482000.2:p.Gln628Glu
ENST00000647510.2:c.1861C>G	ENSP00000508362.1:p.Gln621Glu
ENST00000533211.6:c.1861C>G MANE Select	ENSP00000432568.1:p.Gln621Glu
ENST00000647510.1:n.2388C>G
ENST00000309996.6:c.1861C>G	ENSP00000311489.2:p.Gln621Glu
ENST00000529997.5:c.1861C>G	ENSP00000433593.1:p.Gln621Glu
ENST00000533211.5:c.1861C>G	ENSP00000432568.1:p.Gln621Glu
ENST00000611817.4:c.1854+7C>G	ENSP00000480692.1:n.1854+7C>G
ENST00000617502.4:c.1845+16C>G	ENSP00000482000.1:n.1845+16C>G
NM_006946.2:c.1861C>G	NP_008877.1:p.Gln621Glu
XM_005274192.3:c.1861C>G	XP_005274249.1:p.Gln621Glu
XM_005274193.3:c.1861C>G	XP_005274250.1:p.Gln621Glu
XM_006718669.2:c.1882C>G	XP_006718732.1:p.Gln628Glu
XM_006718671.2:c.1861C>G	XP_006718734.1:p.Gln621Glu
XM_011545216.1:c.1882C>G	XP_011543518.1:p.Gln628Glu
XM_011545217.1:c.1882C>G	XP_011543519.1:p.Gln628Glu
NM_006946.3:c.1861C>G	NP_008877.1:p.Gln621Glu
XM_005274192.4:c.1861C>G	XP_005274249.1:p.Gln621Glu
XM_006718669.3:c.1882C>G	XP_006718732.1:p.Gln628Glu
XM_006718671.4:c.1861C>G	XP_006718734.1:p.Gln621Glu
XM_011545216.3:c.1882C>G	XP_011543518.1:p.Gln628Glu
XM_011545217.2:c.1882C>G	XP_011543519.1:p.Gln628Glu
XM_017018174.1:c.1861C>G	XP_016873663.1:p.Gln621Glu
XM_017018175.2:c.1861C>G	XP_016873664.1:p.Gln621Glu
XM_017018176.1:c.1861C>G	XP_016873665.1:p.Gln621Glu
XM_017018177.2:c.1861C>G	XP_016873666.1:p.Gln621Glu
XM_017018178.1:c.1861C>G	XP_016873667.1:p.Gln621Glu
NM_006946.4:c.1861C>G MANE Select	NP_008877.2:p.Gln621Glu