Canonical Allele Identifier: CA6568852

Gene: BIN2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51291644G>A , CM000674.2:g.51291644G>A	GRCh38
NC_000012.11:g.51685428G>A , CM000674.1:g.51685428G>A	GRCh37
NC_000012.10:g.49971695G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_016293.4:c.1462C>T MANE Select	NP_057377.4:p.His488Tyr
ENST00000615107.6:c.1462C>T MANE Select	ENSP00000483983.2:p.His488Tyr
NM_001290007.1:c.1384C>T	NP_001276936.1:p.His462Tyr
NM_001290007.2:c.1384C>T	NP_001276936.1:p.His462Tyr
NM_001290008.1:c.1462C>T	NP_001276937.1:p.His488Tyr
NM_001290008.2:c.1366C>T	NP_001276937.2:p.His456Tyr
NM_001290009.1:c.1090C>T	NP_001276938.1:p.His364Tyr
NM_001290009.2:c.1090C>T	NP_001276938.1:p.His364Tyr
NM_001364779.1:c.1459C>T	NP_001351708.1:p.His487Tyr
NM_001364780.1:c.1462C>T	NP_001351709.1:p.His488Tyr
NM_001364781.1:c.1300C>T	NP_001351710.1:p.His434Tyr
NM_016293.3:c.1558C>T	NP_057377.3:p.His520Tyr
ENST00000452142.6:c.1418C>T
ENST00000452142.7:c.1366C>T	ENSP00000410217.3:p.His456Tyr
ENST00000544402.5:c.1384C>T	ENSP00000445874.1:p.His462Tyr
ENST00000604560.5:c.1394C>T
ENST00000604560.6:c.1381C>T	ENSP00000474972.3:p.His461Tyr
ENST00000605039.5:n.2084C>T
ENST00000615107.4:c.1558C>T	ENSP00000483983.1:p.His520Tyr
XM_005268957.2:c.1555C>T	XP_005269014.1:p.His519Tyr
XM_005268958.2:c.1558C>T	XP_005269015.1:p.His520Tyr
XM_011538452.1:c.1558C>T	XP_011536754.1:p.His520Tyr
XM_011538453.1:c.1090C>T	XP_011536755.1:p.His364Tyr
XM_024449016.1:c.1090C>T	XP_024304784.1:p.His364Tyr
XR_001748746.1:n.1558C>T