Canonical Allele Identifier: CA348373584

Gene: BIN1

Linked Data

• MyVariant Identifiers: chr2:g.127806167G>A (hg19) ; chr2:g.127048591G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127048591G>A , CM000664.2:g.127048591G>A	GRCh38
NC_000002.11:g.127806167G>A , CM000664.1:g.127806167G>A	GRCh37
NC_000002.10:g.127522637G>A	NCBI36
NG_012042.1:g.63698C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352848.8:c.1300C>T	ENSP00000315284.4:p.Gln434Ter
ENST00000316724.10:c.1717C>T MANE Select	ENSP00000316779.5:p.Gln573Ter
ENST00000259238.8:c.1429C>T	ENSP00000259238.4:p.Gln477Ter
ENST00000316724.9:c.1717C>T	ENSP00000316779.5:p.Gln573Ter
ENST00000346226.7:c.1492C>T	ENSP00000315411.3:p.Gln498Ter
ENST00000348750.8:c.1165C>T	ENSP00000259237.5:p.Gln389Ter
ENST00000351659.7:c.1456C>T	ENSP00000315388.3:p.Gln486Ter
ENST00000352848.7:c.1300C>T	ENSP00000315284.4:p.Gln434Ter
ENST00000357970.7:c.1588C>T	ENSP00000350654.3:p.Gln530Ter
ENST00000376113.6:c.1210C>T	ENSP00000365281.2:p.Gln404Ter
ENST00000393040.7:c.1384C>T	ENSP00000376760.3:p.Gln462Ter
ENST00000393041.7:c.1363C>T	ENSP00000376761.3:p.Gln455Ter
ENST00000409400.1:c.1255C>T	ENSP00000386797.1:p.Gln419Ter
ENST00000462958.5:n.4583C>T
NM_004305.3:c.1300C>T	NP_004296.1:p.Gln434Ter
NM_139343.2:c.1717C>T	NP_647593.1:p.Gln573Ter
NM_139344.2:c.1588C>T	NP_647594.1:p.Gln530Ter
NM_139345.2:c.1456C>T	NP_647595.1:p.Gln486Ter
NM_139346.2:c.1429C>T	NP_647596.1:p.Gln477Ter
NM_139347.2:c.1492C>T	NP_647597.1:p.Gln498Ter
NM_139348.2:c.1384C>T	NP_647598.1:p.Gln462Ter
NM_139349.2:c.1363C>T	NP_647599.1:p.Gln455Ter
NM_139350.2:c.1255C>T	NP_647600.1:p.Gln419Ter
NM_139351.2:c.1165C>T	NP_647601.1:p.Gln389Ter
XM_005263642.2:c.1762C>T	XP_005263699.1:p.Gln588Ter
XM_005263643.2:c.1669C>T	XP_005263700.1:p.Gln557Ter
XM_005263644.2:c.1624C>T	XP_005263701.1:p.Gln542Ter
XM_005263645.1:c.1597C>T	XP_005263702.1:p.Gln533Ter
XM_005263646.2:c.1348C>T	XP_005263703.1:p.Gln450Ter
XM_005263647.2:c.1210C>T	XP_005263704.1:p.Gln404Ter
XM_005263648.1:c.1093C>T	XP_005263705.1:p.Gln365Ter
XM_006712425.2:c.1630C>T	XP_006712488.1:p.Gln544Ter
XM_006712426.2:c.1630C>T	XP_006712489.1:p.Gln544Ter
XM_006712427.1:c.1552C>T	XP_006712490.1:p.Gln518Ter
XM_006712428.2:c.1522C>T	XP_006712491.1:p.Gln508Ter
XM_006712429.2:c.1501C>T	XP_006712492.1:p.Gln501Ter
XM_006712430.2:c.1477C>T	XP_006712493.1:p.Gln493Ter
XM_006712431.2:c.1432C>T	XP_006712494.1:p.Gln478Ter
XM_006712432.2:c.1393C>T	XP_006712495.1:p.Gln465Ter
XM_006712433.2:c.1303C>T	XP_006712496.1:p.Gln435Ter
XM_006712434.2:c.1258C>T	XP_006712497.1:p.Gln420Ter
XM_011510975.1:c.1681C>T	XP_011509277.1:p.Gln561Ter
NM_001320632.1:c.1210C>T	NP_001307561.1:p.Gln404Ter
NM_001320633.1:c.1348C>T	NP_001307562.1:p.Gln450Ter
NM_001320634.1:c.1093C>T	NP_001307563.1:p.Gln365Ter
NM_001320640.1:c.1477C>T	NP_001307569.1:p.Gln493Ter
NM_001320641.1:c.1624C>T	NP_001307570.1:p.Gln542Ter
NM_001320642.1:c.1636C>T	NP_001307571.1:p.Gln546Ter
XM_005263642.4:c.1762C>T	XP_005263699.1:p.Gln588Ter
XM_005263643.4:c.1669C>T	XP_005263700.1:p.Gln557Ter
XM_005263645.2:c.1597C>T	XP_005263702.1:p.Gln533Ter
XM_006712425.4:c.1630C>T	XP_006712488.1:p.Gln544Ter
XM_006712426.4:c.1630C>T	XP_006712489.1:p.Gln544Ter
XM_006712427.2:c.1552C>T	XP_006712490.1:p.Gln518Ter
XM_006712428.4:c.1522C>T	XP_006712491.1:p.Gln508Ter
XM_006712429.4:c.1501C>T	XP_006712492.1:p.Gln501Ter
XM_006712431.4:c.1432C>T	XP_006712494.1:p.Gln478Ter
XM_006712432.4:c.1393C>T	XP_006712495.1:p.Gln465Ter
XM_006712433.4:c.1303C>T	XP_006712496.1:p.Gln435Ter
XM_006712434.4:c.1258C>T	XP_006712497.1:p.Gln420Ter
XM_011510975.3:c.1681C>T	XP_011509277.1:p.Gln561Ter
XM_017003819.1:c.1690C>T	XP_016859308.1:p.Gln564Ter
XM_017003820.2:c.1492C>T	XP_016859309.1:p.Gln498Ter
XM_017003821.2:c.1387C>T	XP_016859310.1:p.Gln463Ter
XM_017003822.2:c.1294C>T	XP_016859311.1:p.Gln432Ter
XM_017003823.1:c.1291C>T	XP_016859312.1:p.Gln431Ter
XM_017003824.1:c.1222C>T	XP_016859313.1:p.Gln408Ter
XM_017003825.1:c.1186C>T	XP_016859314.1:p.Gln396Ter
XM_017003826.1:c.1183C>T	XP_016859315.1:p.Gln395Ter
XM_017003827.2:c.1090C>T	XP_016859316.1:p.Gln364Ter
XM_017003828.2:c.1045C>T	XP_016859317.1:p.Gln349Ter
NM_139343.3:c.1717C>T MANE Select	NP_647593.1:p.Gln573Ter
NM_001320632.2:c.1210C>T	NP_001307561.1:p.Gln404Ter
NM_001320633.2:c.1348C>T	NP_001307562.1:p.Gln450Ter
NM_001320640.2:c.1477C>T	NP_001307569.1:p.Gln493Ter
NM_001320641.2:c.1624C>T	NP_001307570.1:p.Gln542Ter
NM_004305.4:c.1300C>T	NP_004296.1:p.Gln434Ter
NM_139344.3:c.1588C>T	NP_647594.1:p.Gln530Ter
NM_139345.3:c.1456C>T	NP_647595.1:p.Gln486Ter
NM_139346.3:c.1429C>T	NP_647596.1:p.Gln477Ter
NM_139347.3:c.1492C>T	NP_647597.1:p.Gln498Ter
NM_139348.3:c.1384C>T	NP_647598.1:p.Gln462Ter
NM_139349.3:c.1363C>T	NP_647599.1:p.Gln455Ter
NM_139350.3:c.1255C>T	NP_647600.1:p.Gln419Ter
NM_139351.3:c.1165C>T	NP_647601.1:p.Gln389Ter