Canonical Allele Identifier: CA346855663

Gene: SPTBN1

Linked Data

• ClinVar Variation Id: 451355
• ClinVar RCV Id: RCV000520638
• dbSNP Id: rs1553338193
• MyVariant Identifiers: chr2:g.54826339A>T (hg19) ; chr2:g.54599202A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.54599202A>T , CM000664.2:g.54599202A>T	GRCh38
NC_000002.11:g.54826339A>T , CM000664.1:g.54826339A>T	GRCh37
NC_000002.10:g.54679843A>T	NCBI36
NG_029817.1:g.147886A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356805.9:c.259A>T MANE Select	ENSP00000349259.4:p.Met87Leu
ENST00000333896.5:c.220A>T	ENSP00000334156.5:p.Met74Leu
ENST00000356805.8:c.259A>T	ENSP00000349259.4:p.Met87Leu
ENST00000389980.7:c.259A>T	ENSP00000374630.3:p.Met87Leu
ENST00000615901.4:c.259A>T	ENSP00000479037.1:p.Met87Leu
NM_003128.2:c.259A>T	NP_003119.2:p.Met87Leu
NM_178313.2:c.220A>T	NP_842565.2:p.Met74Leu
XM_005264517.1:c.259A>T	XP_005264574.1:p.Met87Leu
XM_005264518.1:c.220A>T	XP_005264575.1:p.Met74Leu
XM_006712087.1:c.259A>T	XP_006712150.1:p.Met87Leu
XM_005264517.2:c.259A>T	XP_005264574.1:p.Met87Leu
XM_005264518.2:c.220A>T	XP_005264575.1:p.Met74Leu
XM_006712087.3:c.259A>T	XP_006712150.1:p.Met87Leu
XM_017004779.1:c.259A>T	XP_016860268.1:p.Met87Leu
XM_017004780.1:c.259A>T	XP_016860269.1:p.Met87Leu
XM_017004781.1:c.259A>T	XP_016860270.1:p.Met87Leu
XR_002959325.1:n.605A>T
NM_003128.3:c.259A>T MANE Select	NP_003119.2:p.Met87Leu
NM_178313.3:c.220A>T	NP_842565.2:p.Met74Leu