Canonical Allele Identifier: CA16619382
Gene: SPTBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 422265
ClinVar RCV Id: RCV000482504
dbSNP Id: rs1064795665
MyVariant Identifiers: chr11:g.66461618C>G (hg19) chr11:g.66694147C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66694147C>G , CM000673.2:g.66694147C>G GRCh38
NC_000011.9:g.66461618C>G , CM000673.1:g.66461618C>G GRCh37
NC_000011.8:g.66218194C>G NCBI36
NG_016150.1:g.32253G>C
NG_016150.2:g.40215G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000309996.7:c.4495G>C ENSP00000311489.2:p.Asp1499His
ENST00000611817.5:c.4495G>C ENSP00000480692.2:p.Asp1499His
ENST00000617502.5:c.4516G>C ENSP00000482000.2:p.Asp1506His
ENST00000647510.2:c.4495G>C ENSP00000508362.1:p.Asp1499His
ENST00000533211.6:c.4495G>C MANE Select ENSP00000432568.1:p.Asp1499His
ENST00000647510.1:n.5022G>C
ENST00000309996.6:c.4495G>C ENSP00000311489.2:p.Asp1499His
ENST00000529997.5:c.4495G>C ENSP00000433593.1:p.Asp1499His
ENST00000533211.5:c.4495G>C ENSP00000432568.1:p.Asp1499His
ENST00000611817.4:c.1855-5486G>C ENSP00000480692.1:n.1855-5486G>C
ENST00000617502.4:c.1846-4791G>C ENSP00000482000.1:n.1846-4791G>C
NM_006946.2:c.4495G>C NP_008877.1:p.Asp1499His
XM_005274192.3:c.4495G>C XP_005274249.1:p.Asp1499His
XM_005274193.3:c.4495G>C XP_005274250.1:p.Asp1499His
XM_006718669.2:c.4516G>C XP_006718732.1:p.Asp1506His
XM_006718671.2:c.4495G>C XP_006718734.1:p.Asp1499His
NM_006946.3:c.4495G>C NP_008877.1:p.Asp1499His
XM_005274192.4:c.4495G>C XP_005274249.1:p.Asp1499His
XM_006718669.3:c.4516G>C XP_006718732.1:p.Asp1506His
XM_006718671.4:c.4495G>C XP_006718734.1:p.Asp1499His
XM_017018174.1:c.4495G>C XP_016873663.1:p.Asp1499His
XM_017018175.2:c.4495G>C XP_016873664.1:p.Asp1499His
XM_017018176.1:c.4495G>C XP_016873665.1:p.Asp1499His
XM_017018177.2:c.4495G>C XP_016873666.1:p.Asp1499His
XM_017018178.1:c.4495G>C XP_016873667.1:p.Asp1499His
NM_006946.4:c.4495G>C MANE Select NP_008877.2:p.Asp1499His
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