Canonical Allele Identifier: CA253456

Gene: SPTBN2

Linked Data

• ClinVar Variation Id: 5275
• ClinVar RCV Id: RCV000005593 ; RCV001682706
• dbSNP Id: rs121918306
• MyVariant Identifiers: chr11:g.66481116A>G (hg19) ; chr11:g.66713645A>G (hg38)
• PubMed: PMID:16429157 ; PMID:20603325

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66713645A>G , CM000673.2:g.66713645A>G	GRCh38
NC_000011.9:g.66481116A>G , CM000673.1:g.66481116A>G	GRCh37
NC_000011.8:g.66237692A>G	NCBI36
NG_016150.1:g.12755T>C
NG_016150.2:g.20717T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309996.7:c.758T>C	ENSP00000311489.2:p.Leu253Pro
ENST00000611817.5:c.758T>C	ENSP00000480692.2:p.Leu253Pro
ENST00000617502.5:c.779T>C	ENSP00000482000.2:p.Leu260Pro
ENST00000647510.2:c.758T>C	ENSP00000508362.1:p.Leu253Pro
ENST00000533211.6:c.758T>C MANE Select	ENSP00000432568.1:p.Leu253Pro
ENST00000647510.1:n.1285T>C
ENST00000309996.6:c.758T>C	ENSP00000311489.2:p.Leu253Pro
ENST00000529997.5:c.758T>C	ENSP00000433593.1:p.Leu253Pro
ENST00000533211.5:c.758T>C	ENSP00000432568.1:p.Leu253Pro
ENST00000611817.4:c.758T>C	ENSP00000480692.1:p.Leu253Pro
ENST00000617502.4:c.758T>C	ENSP00000482000.1:p.Leu253Pro
NM_006946.2:c.758T>C	NP_008877.1:p.Leu253Pro
XM_005274192.3:c.758T>C	XP_005274249.1:p.Leu253Pro
XM_005274193.3:c.758T>C	XP_005274250.1:p.Leu253Pro
XM_006718669.2:c.779T>C	XP_006718732.1:p.Leu260Pro
XM_006718671.2:c.758T>C	XP_006718734.1:p.Leu253Pro
XM_011545216.1:c.779T>C	XP_011543518.1:p.Leu260Pro
XM_011545217.1:c.779T>C	XP_011543519.1:p.Leu260Pro
NM_006946.3:c.758T>C	NP_008877.1:p.Leu253Pro
XM_005274192.4:c.758T>C	XP_005274249.1:p.Leu253Pro
XM_006718669.3:c.779T>C	XP_006718732.1:p.Leu260Pro
XM_006718671.4:c.758T>C	XP_006718734.1:p.Leu253Pro
XM_011545216.3:c.779T>C	XP_011543518.1:p.Leu260Pro
XM_011545217.2:c.779T>C	XP_011543519.1:p.Leu260Pro
XM_017018174.1:c.758T>C	XP_016873663.1:p.Leu253Pro
XM_017018175.2:c.758T>C	XP_016873664.1:p.Leu253Pro
XM_017018176.1:c.758T>C	XP_016873665.1:p.Leu253Pro
XM_017018177.2:c.758T>C	XP_016873666.1:p.Leu253Pro
XM_017018178.1:c.758T>C	XP_016873667.1:p.Leu253Pro
NM_006946.4:c.758T>C MANE Select	NP_008877.2:p.Leu253Pro