Canonical Allele Identifier: CA2838440999

Gene: BIN2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51283315A>C , CM000674.2:g.51283315A>C	GRCh38
NC_000012.11:g.51677099A>C , CM000674.1:g.51677099A>C	GRCh37
NC_000012.10:g.49963366A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452142.7:c.1572+1401T>G	ENSP00000410217.3:n.1572+1401T>G
ENST00000604560.6:c.1499+1401T>G	ENSP00000474972.3:n.1499+1401T>G
ENST00000615107.6:c.1668+1401T>G MANE Select	ENSP00000483983.2:n.1668+1401T>G
ENST00000452142.6:c.1624+1401T>G
ENST00000544402.5:c.1590+1401T>G	ENSP00000445874.1:n.1590+1401T>G
ENST00000604560.5:c.1512+1401T>G
ENST00000605039.5:n.2290+1401T>G
ENST00000615107.4:c.1764+1401T>G	ENSP00000483983.1:n.1764+1401T>G
NM_001290007.1:c.1590+1401T>G	NP_001276936.1:n.1590+1401T>G
NM_001290008.1:c.1668+1401T>G	NP_001276937.1:n.1668+1401T>G
NM_001290009.1:c.1296+1401T>G	NP_001276938.1:n.1296+1401T>G
NM_016293.3:c.1764+1401T>G	NP_057377.3:n.1764+1401T>G
XM_005268957.2:c.1761+1401T>G	XP_005269014.1:n.1761+1401T>G
XM_005268958.2:c.1683+1401T>G	XP_005269015.1:n.1683+1401T>G
XM_011538453.1:c.1296+1401T>G	XP_011536755.1:n.1296+1401T>G
NM_001290007.2:c.1590+1401T>G	NP_001276936.1:n.1590+1401T>G
NM_001290008.2:c.1572+1401T>G	NP_001276937.2:n.1572+1401T>G
NM_001290009.2:c.1296+1401T>G	NP_001276938.1:n.1296+1401T>G
NM_001364779.1:c.1665+1401T>G	NP_001351708.1:n.1665+1401T>G
NM_001364780.1:c.1587+1401T>G	NP_001351709.1:n.1587+1401T>G
NM_001364781.1:c.1506+1401T>G	NP_001351710.1:n.1506+1401T>G
NM_016293.4:c.1668+1401T>G MANE Select	NP_057377.4:n.1668+1401T>G
XM_024449016.1:c.1296+1401T>G	XP_024304784.1:n.1296+1401T>G
XR_001748746.1:n.1913+1401T>G