Canonical Allele Identifier: CA10631294

Gene: SPTBN2

Linked Data

• ClinVar Variation Id: 305519
• ClinVar RCV Id: RCV000367729
• dbSNP Id: rs886048544
• gnomAD v2: 11-66453113-G-GA
• gnomAD v3: 11-66685642-G-GA
• gnomAD v4: 11-66685642-G-GA
• MyVariant Identifiers: chr11:g.66453114dupA (hg19) ; chr11:g.66453113_66453114insA (hg19) ; chr11:g.66685643dupA (hg38) ; chr11:g.66685642_66685643insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66685643dup , CM000673.2:g.66685643dup	GRCh38
NC_000011.9:g.66453114dup , CM000673.1:g.66453114dup	GRCh37
NC_000011.8:g.66209690dup	NCBI36
NG_016150.1:g.40757dup
NG_016150.2:g.48719dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647510.2:c.*216+12dup	ENSP00000508362.1:n.*216+12dup
ENST00000533211.6:c.*228dup MANE Select	ENSP00000432568.1:n.*228dup
ENST00000647510.1:n.7928dup
ENST00000309996.6:c.*228dup	ENSP00000311489.2:n.*228dup
ENST00000529997.5:c.7694dup	ENSP00000433593.1:n.7694dup
ENST00000533211.5:c.*228dup	ENSP00000432568.1:n.*228dup
ENST00000617502.4:c.*228dup	ENSP00000482000.1:n.*228dup
NM_006946.2:c.*228dup	NP_008877.1:n.*228dup
XM_005274192.3:c.*228dup	XP_005274249.1:n.*228dup
XM_005274193.3:c.*228dup	XP_005274250.1:n.*228dup
XM_006718669.2:c.*228dup	XP_006718732.1:n.*228dup
XM_006718671.2:c.*228dup	XP_006718734.1:n.*228dup
NM_006946.3:c.*228dup	NP_008877.1:n.*228dup
XM_005274192.4:c.*228dup	XP_005274249.1:n.*228dup
XM_006718669.3:c.*228dup	XP_006718732.1:n.*228dup
XM_006718671.4:c.*228dup	XP_006718734.1:n.*228dup
XM_017018174.1:c.*228dup	XP_016873663.1:n.*228dup
XM_017018175.2:c.*228dup	XP_016873664.1:n.*228dup
XM_017018176.1:c.*228dup	XP_016873665.1:n.*228dup
XM_017018177.2:c.*228dup	XP_016873666.1:n.*228dup
XM_017018178.1:c.*228dup	XP_016873667.1:n.*228dup
NM_006946.4:c.*228dup MANE Select	NP_008877.2:n.*228dup