Canonical Allele Identifier: CA348373916

Gene: BIN1

Linked Data

• ClinVar Variation Id: 1398238
• ClinVar RCV Id: RCV001912829
• dbSNP Id: rs1682762039
• MyVariant Identifiers: chr2:g.127807999G>T (hg19) ; chr2:g.127050423G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127050423G>T , CM000664.2:g.127050423G>T	GRCh38
NC_000002.11:g.127807999G>T , CM000664.1:g.127807999G>T	GRCh37
NC_000002.10:g.127524469G>T	NCBI36
NG_012042.1:g.61866C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352848.8:c.1255C>A	ENSP00000315284.4:p.Gln419Lys
ENST00000316724.10:c.1672C>A MANE Select	ENSP00000316779.5:p.Gln558Lys
ENST00000259238.8:c.1384C>A	ENSP00000259238.4:p.Gln462Lys
ENST00000316724.9:c.1672C>A	ENSP00000316779.5:p.Gln558Lys
ENST00000346226.7:c.1447C>A	ENSP00000315411.3:p.Gln483Lys
ENST00000348750.8:c.1120C>A	ENSP00000259237.5:p.Gln374Lys
ENST00000351659.7:c.1411C>A	ENSP00000315388.3:p.Gln471Lys
ENST00000352848.7:c.1255C>A	ENSP00000315284.4:p.Gln419Lys
ENST00000357970.7:c.1543C>A	ENSP00000350654.3:p.Gln515Lys
ENST00000376113.6:c.1165C>A	ENSP00000365281.2:p.Gln389Lys
ENST00000393040.7:c.1339C>A	ENSP00000376760.3:p.Gln447Lys
ENST00000393041.7:c.1318C>A	ENSP00000376761.3:p.Gln440Lys
ENST00000409400.1:c.1210C>A	ENSP00000386797.1:p.Gln404Lys
ENST00000462958.5:n.4538C>A
ENST00000466111.5:n.846C>A
ENST00000484253.1:n.857C>A
NM_004305.3:c.1255C>A	NP_004296.1:p.Gln419Lys
NM_139343.2:c.1672C>A	NP_647593.1:p.Gln558Lys
NM_139344.2:c.1543C>A	NP_647594.1:p.Gln515Lys
NM_139345.2:c.1411C>A	NP_647595.1:p.Gln471Lys
NM_139346.2:c.1384C>A	NP_647596.1:p.Gln462Lys
NM_139347.2:c.1447C>A	NP_647597.1:p.Gln483Lys
NM_139348.2:c.1339C>A	NP_647598.1:p.Gln447Lys
NM_139349.2:c.1318C>A	NP_647599.1:p.Gln440Lys
NM_139350.2:c.1210C>A	NP_647600.1:p.Gln404Lys
NM_139351.2:c.1120C>A	NP_647601.1:p.Gln374Lys
XM_005263642.2:c.1717C>A	XP_005263699.1:p.Gln573Lys
XM_005263643.2:c.1624C>A	XP_005263700.1:p.Gln542Lys
XM_005263644.2:c.1579C>A	XP_005263701.1:p.Gln527Lys
XM_005263645.1:c.1552C>A	XP_005263702.1:p.Gln518Lys
XM_005263646.2:c.1303C>A	XP_005263703.1:p.Gln435Lys
XM_005263647.2:c.1165C>A	XP_005263704.1:p.Gln389Lys
XM_005263648.1:c.1048C>A	XP_005263705.1:p.Gln350Lys
XM_006712425.2:c.1585C>A	XP_006712488.1:p.Gln529Lys
XM_006712426.2:c.1585C>A	XP_006712489.1:p.Gln529Lys
XM_006712427.1:c.1507C>A	XP_006712490.1:p.Gln503Lys
XM_006712428.2:c.1477C>A	XP_006712491.1:p.Gln493Lys
XM_006712429.2:c.1456C>A	XP_006712492.1:p.Gln486Lys
XM_006712430.2:c.1432C>A	XP_006712493.1:p.Gln478Lys
XM_006712431.2:c.1387C>A	XP_006712494.1:p.Gln463Lys
XM_006712432.2:c.1348C>A	XP_006712495.1:p.Gln450Lys
XM_006712433.2:c.1258C>A	XP_006712496.1:p.Gln420Lys
XM_006712434.2:c.1213C>A	XP_006712497.1:p.Gln405Lys
XM_011510975.1:c.1636C>A	XP_011509277.1:p.Gln546Lys
NM_001320632.1:c.1165C>A	NP_001307561.1:p.Gln389Lys
NM_001320633.1:c.1303C>A	NP_001307562.1:p.Gln435Lys
NM_001320634.1:c.1048C>A	NP_001307563.1:p.Gln350Lys
NM_001320640.1:c.1432C>A	NP_001307569.1:p.Gln478Lys
NM_001320641.1:c.1579C>A	NP_001307570.1:p.Gln527Lys
NM_001320642.1:c.1591C>A	NP_001307571.1:p.Gln531Lys
XM_005263642.4:c.1717C>A	XP_005263699.1:p.Gln573Lys
XM_005263643.4:c.1624C>A	XP_005263700.1:p.Gln542Lys
XM_005263645.2:c.1552C>A	XP_005263702.1:p.Gln518Lys
XM_006712425.4:c.1585C>A	XP_006712488.1:p.Gln529Lys
XM_006712426.4:c.1585C>A	XP_006712489.1:p.Gln529Lys
XM_006712427.2:c.1507C>A	XP_006712490.1:p.Gln503Lys
XM_006712428.4:c.1477C>A	XP_006712491.1:p.Gln493Lys
XM_006712429.4:c.1456C>A	XP_006712492.1:p.Gln486Lys
XM_006712431.4:c.1387C>A	XP_006712494.1:p.Gln463Lys
XM_006712432.4:c.1348C>A	XP_006712495.1:p.Gln450Lys
XM_006712433.4:c.1258C>A	XP_006712496.1:p.Gln420Lys
XM_006712434.4:c.1213C>A	XP_006712497.1:p.Gln405Lys
XM_011510975.3:c.1636C>A	XP_011509277.1:p.Gln546Lys
XM_017003819.1:c.1645C>A	XP_016859308.1:p.Gln549Lys
XM_017003820.2:c.1447C>A	XP_016859309.1:p.Gln483Lys
XM_017003821.2:c.1342C>A	XP_016859310.1:p.Gln448Lys
XM_017003822.2:c.1249C>A	XP_016859311.1:p.Gln417Lys
XM_017003823.1:c.1246C>A	XP_016859312.1:p.Gln416Lys
XM_017003824.1:c.1177C>A	XP_016859313.1:p.Gln393Lys
XM_017003825.1:c.1141C>A	XP_016859314.1:p.Gln381Lys
XM_017003826.1:c.1138C>A	XP_016859315.1:p.Gln380Lys
XM_017003827.2:c.1048-1790C>A	XP_016859316.1:n.1048-1790C>A
XM_017003828.2:c.1003-1790C>A	XP_016859317.1:n.1003-1790C>A
NM_139343.3:c.1672C>A MANE Select	NP_647593.1:p.Gln558Lys
NM_001320632.2:c.1165C>A	NP_001307561.1:p.Gln389Lys
NM_001320633.2:c.1303C>A	NP_001307562.1:p.Gln435Lys
NM_001320640.2:c.1432C>A	NP_001307569.1:p.Gln478Lys
NM_001320641.2:c.1579C>A	NP_001307570.1:p.Gln527Lys
NM_004305.4:c.1255C>A	NP_004296.1:p.Gln419Lys
NM_139344.3:c.1543C>A	NP_647594.1:p.Gln515Lys
NM_139345.3:c.1411C>A	NP_647595.1:p.Gln471Lys
NM_139346.3:c.1384C>A	NP_647596.1:p.Gln462Lys
NM_139347.3:c.1447C>A	NP_647597.1:p.Gln483Lys
NM_139348.3:c.1339C>A	NP_647598.1:p.Gln447Lys
NM_139349.3:c.1318C>A	NP_647599.1:p.Gln440Lys
NM_139350.3:c.1210C>A	NP_647600.1:p.Gln404Lys
NM_139351.3:c.1120C>A	NP_647601.1:p.Gln374Lys