Canonical Allele Identifier: CA348373627

Gene: BIN1

Linked Data

• MyVariant Identifiers: chr2:g.127806175T>A (hg19) ; chr2:g.127048599T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127048599T>A , CM000664.2:g.127048599T>A	GRCh38
NC_000002.11:g.127806175T>A , CM000664.1:g.127806175T>A	GRCh37
NC_000002.10:g.127522645T>A	NCBI36
NG_012042.1:g.63690A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352848.8:c.1292A>T	ENSP00000315284.4:p.Asp431Val
ENST00000316724.10:c.1709A>T MANE Select	ENSP00000316779.5:p.Asp570Val
ENST00000259238.8:c.1421A>T	ENSP00000259238.4:p.Asp474Val
ENST00000316724.9:c.1709A>T	ENSP00000316779.5:p.Asp570Val
ENST00000346226.7:c.1484A>T	ENSP00000315411.3:p.Asp495Val
ENST00000348750.8:c.1157A>T	ENSP00000259237.5:p.Asp386Val
ENST00000351659.7:c.1448A>T	ENSP00000315388.3:p.Asp483Val
ENST00000352848.7:c.1292A>T	ENSP00000315284.4:p.Asp431Val
ENST00000357970.7:c.1580A>T	ENSP00000350654.3:p.Asp527Val
ENST00000376113.6:c.1202A>T	ENSP00000365281.2:p.Asp401Val
ENST00000393040.7:c.1376A>T	ENSP00000376760.3:p.Asp459Val
ENST00000393041.7:c.1355A>T	ENSP00000376761.3:p.Asp452Val
ENST00000409400.1:c.1247A>T	ENSP00000386797.1:p.Asp416Val
ENST00000462958.5:n.4575A>T
NM_004305.3:c.1292A>T	NP_004296.1:p.Asp431Val
NM_139343.2:c.1709A>T	NP_647593.1:p.Asp570Val
NM_139344.2:c.1580A>T	NP_647594.1:p.Asp527Val
NM_139345.2:c.1448A>T	NP_647595.1:p.Asp483Val
NM_139346.2:c.1421A>T	NP_647596.1:p.Asp474Val
NM_139347.2:c.1484A>T	NP_647597.1:p.Asp495Val
NM_139348.2:c.1376A>T	NP_647598.1:p.Asp459Val
NM_139349.2:c.1355A>T	NP_647599.1:p.Asp452Val
NM_139350.2:c.1247A>T	NP_647600.1:p.Asp416Val
NM_139351.2:c.1157A>T	NP_647601.1:p.Asp386Val
XM_005263642.2:c.1754A>T	XP_005263699.1:p.Asp585Val
XM_005263643.2:c.1661A>T	XP_005263700.1:p.Asp554Val
XM_005263644.2:c.1616A>T	XP_005263701.1:p.Asp539Val
XM_005263645.1:c.1589A>T	XP_005263702.1:p.Asp530Val
XM_005263646.2:c.1340A>T	XP_005263703.1:p.Asp447Val
XM_005263647.2:c.1202A>T	XP_005263704.1:p.Asp401Val
XM_005263648.1:c.1085A>T	XP_005263705.1:p.Asp362Val
XM_006712425.2:c.1622A>T	XP_006712488.1:p.Asp541Val
XM_006712426.2:c.1622A>T	XP_006712489.1:p.Asp541Val
XM_006712427.1:c.1544A>T	XP_006712490.1:p.Asp515Val
XM_006712428.2:c.1514A>T	XP_006712491.1:p.Asp505Val
XM_006712429.2:c.1493A>T	XP_006712492.1:p.Asp498Val
XM_006712430.2:c.1469A>T	XP_006712493.1:p.Asp490Val
XM_006712431.2:c.1424A>T	XP_006712494.1:p.Asp475Val
XM_006712432.2:c.1385A>T	XP_006712495.1:p.Asp462Val
XM_006712433.2:c.1295A>T	XP_006712496.1:p.Asp432Val
XM_006712434.2:c.1250A>T	XP_006712497.1:p.Asp417Val
XM_011510975.1:c.1673A>T	XP_011509277.1:p.Asp558Val
NM_001320632.1:c.1202A>T	NP_001307561.1:p.Asp401Val
NM_001320633.1:c.1340A>T	NP_001307562.1:p.Asp447Val
NM_001320634.1:c.1085A>T	NP_001307563.1:p.Asp362Val
NM_001320640.1:c.1469A>T	NP_001307569.1:p.Asp490Val
NM_001320641.1:c.1616A>T	NP_001307570.1:p.Asp539Val
NM_001320642.1:c.1628A>T	NP_001307571.1:p.Asp543Val
XM_005263642.4:c.1754A>T	XP_005263699.1:p.Asp585Val
XM_005263643.4:c.1661A>T	XP_005263700.1:p.Asp554Val
XM_005263645.2:c.1589A>T	XP_005263702.1:p.Asp530Val
XM_006712425.4:c.1622A>T	XP_006712488.1:p.Asp541Val
XM_006712426.4:c.1622A>T	XP_006712489.1:p.Asp541Val
XM_006712427.2:c.1544A>T	XP_006712490.1:p.Asp515Val
XM_006712428.4:c.1514A>T	XP_006712491.1:p.Asp505Val
XM_006712429.4:c.1493A>T	XP_006712492.1:p.Asp498Val
XM_006712431.4:c.1424A>T	XP_006712494.1:p.Asp475Val
XM_006712432.4:c.1385A>T	XP_006712495.1:p.Asp462Val
XM_006712433.4:c.1295A>T	XP_006712496.1:p.Asp432Val
XM_006712434.4:c.1250A>T	XP_006712497.1:p.Asp417Val
XM_011510975.3:c.1673A>T	XP_011509277.1:p.Asp558Val
XM_017003819.1:c.1682A>T	XP_016859308.1:p.Asp561Val
XM_017003820.2:c.1484A>T	XP_016859309.1:p.Asp495Val
XM_017003821.2:c.1379A>T	XP_016859310.1:p.Asp460Val
XM_017003822.2:c.1286A>T	XP_016859311.1:p.Asp429Val
XM_017003823.1:c.1283A>T	XP_016859312.1:p.Asp428Val
XM_017003824.1:c.1214A>T	XP_016859313.1:p.Asp405Val
XM_017003825.1:c.1178A>T	XP_016859314.1:p.Asp393Val
XM_017003826.1:c.1175A>T	XP_016859315.1:p.Asp392Val
XM_017003827.2:c.1082A>T	XP_016859316.1:p.Asp361Val
XM_017003828.2:c.1037A>T	XP_016859317.1:p.Asp346Val
NM_139343.3:c.1709A>T MANE Select	NP_647593.1:p.Asp570Val
NM_001320632.2:c.1202A>T	NP_001307561.1:p.Asp401Val
NM_001320633.2:c.1340A>T	NP_001307562.1:p.Asp447Val
NM_001320640.2:c.1469A>T	NP_001307569.1:p.Asp490Val
NM_001320641.2:c.1616A>T	NP_001307570.1:p.Asp539Val
NM_004305.4:c.1292A>T	NP_004296.1:p.Asp431Val
NM_139344.3:c.1580A>T	NP_647594.1:p.Asp527Val
NM_139345.3:c.1448A>T	NP_647595.1:p.Asp483Val
NM_139346.3:c.1421A>T	NP_647596.1:p.Asp474Val
NM_139347.3:c.1484A>T	NP_647597.1:p.Asp495Val
NM_139348.3:c.1376A>T	NP_647598.1:p.Asp459Val
NM_139349.3:c.1355A>T	NP_647599.1:p.Asp452Val
NM_139350.3:c.1247A>T	NP_647600.1:p.Asp416Val
NM_139351.3:c.1157A>T	NP_647601.1:p.Asp386Val