Canonical Allele Identifier: CA348373315

Gene: BIN1

Linked Data

• ClinVar Variation Id: 1054998
• ClinVar RCV Id: RCV001363597
• dbSNP Id: rs2104839547
• MyVariant Identifiers: chr2:g.127806113T>C (hg19) ; chr2:g.127048537T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127048537T>C , CM000664.2:g.127048537T>C	GRCh38
NC_000002.11:g.127806113T>C , CM000664.1:g.127806113T>C	GRCh37
NC_000002.10:g.127522583T>C	NCBI36
NG_012042.1:g.63752A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352848.8:c.1354A>G	ENSP00000315284.4:p.Arg452Gly
ENST00000316724.10:c.1771A>G MANE Select	ENSP00000316779.5:p.Arg591Gly
ENST00000259238.8:c.1483A>G	ENSP00000259238.4:p.Arg495Gly
ENST00000316724.9:c.1771A>G	ENSP00000316779.5:p.Arg591Gly
ENST00000346226.7:c.1546A>G	ENSP00000315411.3:p.Arg516Gly
ENST00000348750.8:c.1219A>G	ENSP00000259237.5:p.Arg407Gly
ENST00000351659.7:c.1510A>G	ENSP00000315388.3:p.Arg504Gly
ENST00000352848.7:c.1354A>G	ENSP00000315284.4:p.Arg452Gly
ENST00000357970.7:c.1642A>G	ENSP00000350654.3:p.Arg548Gly
ENST00000376113.6:c.1264A>G	ENSP00000365281.2:p.Arg422Gly
ENST00000393040.7:c.1438A>G	ENSP00000376760.3:p.Arg480Gly
ENST00000393041.7:c.1417A>G	ENSP00000376761.3:p.Arg473Gly
ENST00000409400.1:c.1309A>G	ENSP00000386797.1:p.Arg437Gly
ENST00000462958.5:n.4637A>G
NM_004305.3:c.1354A>G	NP_004296.1:p.Arg452Gly
NM_139343.2:c.1771A>G	NP_647593.1:p.Arg591Gly
NM_139344.2:c.1642A>G	NP_647594.1:p.Arg548Gly
NM_139345.2:c.1510A>G	NP_647595.1:p.Arg504Gly
NM_139346.2:c.1483A>G	NP_647596.1:p.Arg495Gly
NM_139347.2:c.1546A>G	NP_647597.1:p.Arg516Gly
NM_139348.2:c.1438A>G	NP_647598.1:p.Arg480Gly
NM_139349.2:c.1417A>G	NP_647599.1:p.Arg473Gly
NM_139350.2:c.1309A>G	NP_647600.1:p.Arg437Gly
NM_139351.2:c.1219A>G	NP_647601.1:p.Arg407Gly
XM_005263642.2:c.1816A>G	XP_005263699.1:p.Arg606Gly
XM_005263643.2:c.1723A>G	XP_005263700.1:p.Arg575Gly
XM_005263644.2:c.1678A>G	XP_005263701.1:p.Arg560Gly
XM_005263645.1:c.1651A>G	XP_005263702.1:p.Arg551Gly
XM_005263646.2:c.1402A>G	XP_005263703.1:p.Arg468Gly
XM_005263647.2:c.1264A>G	XP_005263704.1:p.Arg422Gly
XM_005263648.1:c.1147A>G	XP_005263705.1:p.Arg383Gly
XM_006712425.2:c.1684A>G	XP_006712488.1:p.Arg562Gly
XM_006712426.2:c.1684A>G	XP_006712489.1:p.Arg562Gly
XM_006712427.1:c.1606A>G	XP_006712490.1:p.Arg536Gly
XM_006712428.2:c.1576A>G	XP_006712491.1:p.Arg526Gly
XM_006712429.2:c.1555A>G	XP_006712492.1:p.Arg519Gly
XM_006712430.2:c.1531A>G	XP_006712493.1:p.Arg511Gly
XM_006712431.2:c.1486A>G	XP_006712494.1:p.Arg496Gly
XM_006712432.2:c.1447A>G	XP_006712495.1:p.Arg483Gly
XM_006712433.2:c.1357A>G	XP_006712496.1:p.Arg453Gly
XM_006712434.2:c.1312A>G	XP_006712497.1:p.Arg438Gly
XM_011510975.1:c.1735A>G	XP_011509277.1:p.Arg579Gly
NM_001320632.1:c.1264A>G	NP_001307561.1:p.Arg422Gly
NM_001320633.1:c.1402A>G	NP_001307562.1:p.Arg468Gly
NM_001320634.1:c.1147A>G	NP_001307563.1:p.Arg383Gly
NM_001320640.1:c.1531A>G	NP_001307569.1:p.Arg511Gly
NM_001320641.1:c.1678A>G	NP_001307570.1:p.Arg560Gly
NM_001320642.1:c.1690A>G	NP_001307571.1:p.Arg564Gly
XM_005263642.4:c.1816A>G	XP_005263699.1:p.Arg606Gly
XM_005263643.4:c.1723A>G	XP_005263700.1:p.Arg575Gly
XM_005263645.2:c.1651A>G	XP_005263702.1:p.Arg551Gly
XM_006712425.4:c.1684A>G	XP_006712488.1:p.Arg562Gly
XM_006712426.4:c.1684A>G	XP_006712489.1:p.Arg562Gly
XM_006712427.2:c.1606A>G	XP_006712490.1:p.Arg536Gly
XM_006712428.4:c.1576A>G	XP_006712491.1:p.Arg526Gly
XM_006712429.4:c.1555A>G	XP_006712492.1:p.Arg519Gly
XM_006712431.4:c.1486A>G	XP_006712494.1:p.Arg496Gly
XM_006712432.4:c.1447A>G	XP_006712495.1:p.Arg483Gly
XM_006712433.4:c.1357A>G	XP_006712496.1:p.Arg453Gly
XM_006712434.4:c.1312A>G	XP_006712497.1:p.Arg438Gly
XM_011510975.3:c.1735A>G	XP_011509277.1:p.Arg579Gly
XM_017003819.1:c.1744A>G	XP_016859308.1:p.Arg582Gly
XM_017003820.2:c.1546A>G	XP_016859309.1:p.Arg516Gly
XM_017003821.2:c.1441A>G	XP_016859310.1:p.Arg481Gly
XM_017003822.2:c.1348A>G	XP_016859311.1:p.Arg450Gly
XM_017003823.1:c.1345A>G	XP_016859312.1:p.Arg449Gly
XM_017003824.1:c.1276A>G	XP_016859313.1:p.Arg426Gly
XM_017003825.1:c.1240A>G	XP_016859314.1:p.Arg414Gly
XM_017003826.1:c.1237A>G	XP_016859315.1:p.Arg413Gly
XM_017003827.2:c.1144A>G	XP_016859316.1:p.Arg382Gly
XM_017003828.2:c.1099A>G	XP_016859317.1:p.Arg367Gly
NM_139343.3:c.1771A>G MANE Select	NP_647593.1:p.Arg591Gly
NM_001320632.2:c.1264A>G	NP_001307561.1:p.Arg422Gly
NM_001320633.2:c.1402A>G	NP_001307562.1:p.Arg468Gly
NM_001320640.2:c.1531A>G	NP_001307569.1:p.Arg511Gly
NM_001320641.2:c.1678A>G	NP_001307570.1:p.Arg560Gly
NM_004305.4:c.1354A>G	NP_004296.1:p.Arg452Gly
NM_139344.3:c.1642A>G	NP_647594.1:p.Arg548Gly
NM_139345.3:c.1510A>G	NP_647595.1:p.Arg504Gly
NM_139346.3:c.1483A>G	NP_647596.1:p.Arg495Gly
NM_139347.3:c.1546A>G	NP_647597.1:p.Arg516Gly
NM_139348.3:c.1438A>G	NP_647598.1:p.Arg480Gly
NM_139349.3:c.1417A>G	NP_647599.1:p.Arg473Gly
NM_139350.3:c.1309A>G	NP_647600.1:p.Arg437Gly
NM_139351.3:c.1219A>G	NP_647601.1:p.Arg407Gly