Canonical Allele Identifier: CA346886389

Gene: SPTBN1

Linked Data

• ClinVar Variation Id: 1507791
• ClinVar RCV Id: RCV002013634
• dbSNP Id: rs2103930448
• COSMIC: COSM4839859 ; COSM4839860
• MyVariant Identifiers: chr2:g.54857139A>G (hg19) ; chr2:g.54630002A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.54630002A>G , CM000664.2:g.54630002A>G	GRCh38
NC_000002.11:g.54857139A>G , CM000664.1:g.54857139A>G	GRCh37
NC_000002.10:g.54710643A>G	NCBI36
NG_029817.1:g.178686A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356805.9:c.2780A>G MANE Select	ENSP00000349259.4:p.Lys927Arg
ENST00000333896.5:c.2741A>G	ENSP00000334156.5:p.Lys914Arg
ENST00000356805.8:c.2780A>G	ENSP00000349259.4:p.Lys927Arg
ENST00000615901.4:c.2780A>G	ENSP00000479037.1:p.Lys927Arg
NM_003128.2:c.2780A>G	NP_003119.2:p.Lys927Arg
NM_178313.2:c.2741A>G	NP_842565.2:p.Lys914Arg
XM_005264517.1:c.2780A>G	XP_005264574.1:p.Lys927Arg
XM_005264518.1:c.2741A>G	XP_005264575.1:p.Lys914Arg
XM_006712087.1:c.2780A>G	XP_006712150.1:p.Lys927Arg
XM_005264517.2:c.2780A>G	XP_005264574.1:p.Lys927Arg
XM_005264518.2:c.2741A>G	XP_005264575.1:p.Lys914Arg
XM_006712087.3:c.2780A>G	XP_006712150.1:p.Lys927Arg
XM_017004779.1:c.2780A>G	XP_016860268.1:p.Lys927Arg
XM_017004780.1:c.2780A>G	XP_016860269.1:p.Lys927Arg
XM_017004781.1:c.2780A>G	XP_016860270.1:p.Lys927Arg
XR_002959325.1:n.3126A>G
NM_003128.3:c.2780A>G MANE Select	NP_003119.2:p.Lys927Arg
NM_178313.3:c.2741A>G	NP_842565.2:p.Lys914Arg