Canonical Allele Identifier: CA6752080
Gene: STAB2 HGNC NCBI

Linked Data

dbSNP Id: rs7306642
ExAC: 12:104139034 C / A
gnomAD v2: 12-104139034-C-A
gnomAD v3: 12-103745256-C-A
gnomAD v4: 12-103745256-C-A
MyVariant Identifiers: chr12:g.104139034C>A (hg19) chr12:g.103745256C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.103745256C>A , CM000674.2:g.103745256C>A GRCh38
NC_000012.11:g.104139034C>A , CM000674.1:g.104139034C>A GRCh37
NC_000012.10:g.102663164C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000388887.7:c.6115C>A MANE Select ENSP00000373539.2:p.Pro2039Thr
ENST00000388887.6:c.6115C>A ENSP00000373539.2:p.Pro2039Thr
NM_017564.9:c.6115C>A NP_060034.9:p.Pro2039Thr
XM_011538537.1:c.6115C>A XP_011536839.1:p.Pro2039Thr
XM_011538538.1:c.6115C>A XP_011536840.1:p.Pro2039Thr
XM_011538539.1:c.4444C>A XP_011536841.1:p.Pro1482Thr
XM_011538541.1:c.3514C>A XP_011536843.1:p.Pro1172Thr
XM_011538542.1:c.2176C>A XP_011536844.1:p.Pro726Thr
XR_429107.2:n.6335C>A
XR_944609.1:n.6335C>A
XM_011538537.2:c.6115C>A XP_011536839.1:p.Pro2039Thr
XM_011538538.3:c.6115C>A XP_011536840.1:p.Pro2039Thr
XM_011538539.2:c.4444C>A XP_011536841.1:p.Pro1482Thr
XM_011538541.2:c.3514C>A XP_011536843.1:p.Pro1172Thr
XM_011538542.2:c.2176C>A XP_011536844.1:p.Pro726Thr
XM_017019585.1:c.6115C>A XP_016875074.1:p.Pro2039Thr
XR_429107.3:n.6342C>A
NM_017564.10:c.6115C>A MANE Select NP_060034.9:p.Pro2039Thr
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