Canonical Allele Identifier: CA387761048

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32332478C>T , CM000675.2:g.32332478C>T	GRCh38
NC_000013.10:g.32906615C>T , CM000675.1:g.32906615C>T	GRCh37
NC_000013.9:g.31804615C>T	NCBI36
NG_012772.3:g.21999C>T , LRG_293:g.21999C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.1000C>T MANE Select	NP_000050.3:p.His334Tyr
ENST00000380152.8:c.1000C>T MANE Select	ENSP00000369497.3:p.His334Tyr
NM_000059.3:c.1000C>T , LRG_293t1:c.1000C>T	NP_000050.2:p.His334Tyr
ENST00000380152.7:c.1000C>T	ENSP00000369497.3:p.His334Tyr
ENST00000470094.2:c.1000C>T	ENSP00000434898.2:p.His334Tyr
ENST00000528762.2:c.1000C>T	ENSP00000433168.2:p.His334Tyr
ENST00000530893.6:n.1198C>T
ENST00000530893.7:c.631C>T	ENSP00000499438.2:p.His211Tyr
ENST00000544455.5:c.1000C>T	ENSP00000439902.1:p.His334Tyr
ENST00000544455.6:c.1000C>T	ENSP00000439902.1:p.His334Tyr
ENST00000614259.1:n.1000C>T
ENST00000614259.2:c.1000C>T	ENSP00000506251.1:p.His334Tyr
ENST00000665585.2:c.1000C>T	ENSP00000499570.2:p.His334Tyr
ENST00000666593.2:c.1000C>T	ENSP00000499256.2:p.His334Tyr
ENST00000680887.1:c.1000C>T	ENSP00000505508.1:p.His334Tyr
ENST00000700201.1:c.*779C>T	ENSP00000514855.1:n.*779C>T
ENST00000700202.2:c.1000C>T	ENSP00000514856.2:p.His334Tyr
XM_011535203.1:c.1000C>T	XP_011533505.1:p.His334Tyr
XM_011535204.1:c.1000C>T	XP_011533506.1:p.His334Tyr
XM_011535205.1:c.1000C>T	XP_011533507.1:p.His334Tyr