Canonical Allele Identifier: CA348374209

Gene: BIN1

Linked Data

• MyVariant Identifiers: chr2:g.127808071T>A (hg19) ; chr2:g.127050495T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127050495T>A , CM000664.2:g.127050495T>A	GRCh38
NC_000002.11:g.127808071T>A , CM000664.1:g.127808071T>A	GRCh37
NC_000002.10:g.127524541T>A	NCBI36
NG_012042.1:g.61794A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352848.8:c.1183A>T	ENSP00000315284.4:p.Thr395Ser
ENST00000316724.10:c.1600A>T MANE Select	ENSP00000316779.5:p.Thr534Ser
ENST00000259238.8:c.1312A>T	ENSP00000259238.4:p.Thr438Ser
ENST00000316724.9:c.1600A>T	ENSP00000316779.5:p.Thr534Ser
ENST00000346226.7:c.1375A>T	ENSP00000315411.3:p.Thr459Ser
ENST00000348750.8:c.1048A>T	ENSP00000259237.5:p.Thr350Ser
ENST00000351659.7:c.1339A>T	ENSP00000315388.3:p.Thr447Ser
ENST00000352848.7:c.1183A>T	ENSP00000315284.4:p.Thr395Ser
ENST00000357970.7:c.1471A>T	ENSP00000350654.3:p.Thr491Ser
ENST00000376113.6:c.1093A>T	ENSP00000365281.2:p.Thr365Ser
ENST00000393040.7:c.1267A>T	ENSP00000376760.3:p.Thr423Ser
ENST00000393041.7:c.1246A>T	ENSP00000376761.3:p.Thr416Ser
ENST00000409400.1:c.1138A>T	ENSP00000386797.1:p.Thr380Ser
ENST00000462958.5:n.4466A>T
ENST00000466111.5:n.774A>T
ENST00000484253.1:n.785A>T
NM_004305.3:c.1183A>T	NP_004296.1:p.Thr395Ser
NM_139343.2:c.1600A>T	NP_647593.1:p.Thr534Ser
NM_139344.2:c.1471A>T	NP_647594.1:p.Thr491Ser
NM_139345.2:c.1339A>T	NP_647595.1:p.Thr447Ser
NM_139346.2:c.1312A>T	NP_647596.1:p.Thr438Ser
NM_139347.2:c.1375A>T	NP_647597.1:p.Thr459Ser
NM_139348.2:c.1267A>T	NP_647598.1:p.Thr423Ser
NM_139349.2:c.1246A>T	NP_647599.1:p.Thr416Ser
NM_139350.2:c.1138A>T	NP_647600.1:p.Thr380Ser
NM_139351.2:c.1048A>T	NP_647601.1:p.Thr350Ser
XM_005263642.2:c.1645A>T	XP_005263699.1:p.Thr549Ser
XM_005263643.2:c.1552A>T	XP_005263700.1:p.Thr518Ser
XM_005263644.2:c.1507A>T	XP_005263701.1:p.Thr503Ser
XM_005263645.1:c.1480A>T	XP_005263702.1:p.Thr494Ser
XM_005263646.2:c.1231A>T	XP_005263703.1:p.Thr411Ser
XM_005263647.2:c.1093A>T	XP_005263704.1:p.Thr365Ser
XM_005263648.1:c.976A>T	XP_005263705.1:p.Thr326Ser
XM_006712425.2:c.1513A>T	XP_006712488.1:p.Thr505Ser
XM_006712426.2:c.1513A>T	XP_006712489.1:p.Thr505Ser
XM_006712427.1:c.1435A>T	XP_006712490.1:p.Thr479Ser
XM_006712428.2:c.1405A>T	XP_006712491.1:p.Thr469Ser
XM_006712429.2:c.1384A>T	XP_006712492.1:p.Thr462Ser
XM_006712430.2:c.1360A>T	XP_006712493.1:p.Thr454Ser
XM_006712431.2:c.1315A>T	XP_006712494.1:p.Thr439Ser
XM_006712432.2:c.1276A>T	XP_006712495.1:p.Thr426Ser
XM_006712433.2:c.1186A>T	XP_006712496.1:p.Thr396Ser
XM_006712434.2:c.1141A>T	XP_006712497.1:p.Thr381Ser
XM_011510975.1:c.1564A>T	XP_011509277.1:p.Thr522Ser
NM_001320632.1:c.1093A>T	NP_001307561.1:p.Thr365Ser
NM_001320633.1:c.1231A>T	NP_001307562.1:p.Thr411Ser
NM_001320634.1:c.976A>T	NP_001307563.1:p.Thr326Ser
NM_001320640.1:c.1360A>T	NP_001307569.1:p.Thr454Ser
NM_001320641.1:c.1507A>T	NP_001307570.1:p.Thr503Ser
NM_001320642.1:c.1519A>T	NP_001307571.1:p.Thr507Ser
XM_005263642.4:c.1645A>T	XP_005263699.1:p.Thr549Ser
XM_005263643.4:c.1552A>T	XP_005263700.1:p.Thr518Ser
XM_005263645.2:c.1480A>T	XP_005263702.1:p.Thr494Ser
XM_006712425.4:c.1513A>T	XP_006712488.1:p.Thr505Ser
XM_006712426.4:c.1513A>T	XP_006712489.1:p.Thr505Ser
XM_006712427.2:c.1435A>T	XP_006712490.1:p.Thr479Ser
XM_006712428.4:c.1405A>T	XP_006712491.1:p.Thr469Ser
XM_006712429.4:c.1384A>T	XP_006712492.1:p.Thr462Ser
XM_006712431.4:c.1315A>T	XP_006712494.1:p.Thr439Ser
XM_006712432.4:c.1276A>T	XP_006712495.1:p.Thr426Ser
XM_006712433.4:c.1186A>T	XP_006712496.1:p.Thr396Ser
XM_006712434.4:c.1141A>T	XP_006712497.1:p.Thr381Ser
XM_011510975.3:c.1564A>T	XP_011509277.1:p.Thr522Ser
XM_017003819.1:c.1573A>T	XP_016859308.1:p.Thr525Ser
XM_017003820.2:c.1375A>T	XP_016859309.1:p.Thr459Ser
XM_017003821.2:c.1270A>T	XP_016859310.1:p.Thr424Ser
XM_017003822.2:c.1177A>T	XP_016859311.1:p.Thr393Ser
XM_017003823.1:c.1174A>T	XP_016859312.1:p.Thr392Ser
XM_017003824.1:c.1105A>T	XP_016859313.1:p.Thr369Ser
XM_017003825.1:c.1069A>T	XP_016859314.1:p.Thr357Ser
XM_017003826.1:c.1066A>T	XP_016859315.1:p.Thr356Ser
XM_017003827.2:c.1048-1862A>T	XP_016859316.1:n.1048-1862A>T
XM_017003828.2:c.1003-1862A>T	XP_016859317.1:n.1003-1862A>T
NM_139343.3:c.1600A>T MANE Select	NP_647593.1:p.Thr534Ser
NM_001320632.2:c.1093A>T	NP_001307561.1:p.Thr365Ser
NM_001320633.2:c.1231A>T	NP_001307562.1:p.Thr411Ser
NM_001320640.2:c.1360A>T	NP_001307569.1:p.Thr454Ser
NM_001320641.2:c.1507A>T	NP_001307570.1:p.Thr503Ser
NM_004305.4:c.1183A>T	NP_004296.1:p.Thr395Ser
NM_139344.3:c.1471A>T	NP_647594.1:p.Thr491Ser
NM_139345.3:c.1339A>T	NP_647595.1:p.Thr447Ser
NM_139346.3:c.1312A>T	NP_647596.1:p.Thr438Ser
NM_139347.3:c.1375A>T	NP_647597.1:p.Thr459Ser
NM_139348.3:c.1267A>T	NP_647598.1:p.Thr423Ser
NM_139349.3:c.1246A>T	NP_647599.1:p.Thr416Ser
NM_139350.3:c.1138A>T	NP_647600.1:p.Thr380Ser
NM_139351.3:c.1048A>T	NP_647601.1:p.Thr350Ser