Canonical Allele Identifier: CA6568979

Gene: BIN2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51295817A>G , CM000674.2:g.51295817A>G	GRCh38
NC_000012.11:g.51689601A>G , CM000674.1:g.51689601A>G	GRCh37
NC_000012.10:g.49975868A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_016293.4:c.740T>C MANE Select	NP_057377.4:p.Phe247Ser
ENST00000615107.6:c.740T>C MANE Select	ENSP00000483983.2:p.Phe247Ser
NM_001290007.1:c.662T>C	NP_001276936.1:p.Phe221Ser
NM_001290007.2:c.662T>C	NP_001276936.1:p.Phe221Ser
NM_001290008.1:c.740T>C	NP_001276937.1:p.Phe247Ser
NM_001290008.2:c.644T>C	NP_001276937.2:p.Phe215Ser
NM_001290009.1:c.368T>C	NP_001276938.1:p.Phe123Ser
NM_001290009.2:c.368T>C	NP_001276938.1:p.Phe123Ser
NM_001364779.1:c.740T>C	NP_001351708.1:p.Phe247Ser
NM_001364780.1:c.740T>C	NP_001351709.1:p.Phe247Ser
NM_001364781.1:c.602+3386T>C	NP_001351710.1:n.602+3386T>C
NM_016293.3:c.836T>C	NP_057377.3:p.Phe279Ser
ENST00000452142.6:c.696T>C
ENST00000452142.7:c.644T>C	ENSP00000410217.3:p.Phe215Ser
ENST00000544402.5:c.662T>C	ENSP00000445874.1:p.Phe221Ser
ENST00000603177.5:n.342T>C
ENST00000604560.5:c.672T>C
ENST00000604560.6:c.659T>C	ENSP00000474972.3:p.Phe220Ser
ENST00000605039.5:n.1362T>C
ENST00000605819.1:n.347T>C
ENST00000615107.4:c.836T>C	ENSP00000483983.1:p.Phe279Ser
XM_005268957.2:c.836T>C	XP_005269014.1:p.Phe279Ser
XM_005268958.2:c.836T>C	XP_005269015.1:p.Phe279Ser
XM_011538452.1:c.836T>C	XP_011536754.1:p.Phe279Ser
XM_011538453.1:c.368T>C	XP_011536755.1:p.Phe123Ser
XM_024449016.1:c.368T>C	XP_024304784.1:p.Phe123Ser
XR_001748746.1:n.836T>C