Canonical Allele Identifier: CA10579818

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 229909
• ClinVar RCV Id: RCV000220645 ; RCV002518246
• dbSNP Id: rs876658262
• MyVariant Identifiers: chr13:g.32954243G>T (hg19) ; chr13:g.32380106G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380106G>T , CM000675.2:g.32380106G>T	GRCh38
NC_000013.10:g.32954243G>T , CM000675.1:g.32954243G>T	GRCh37
NC_000013.9:g.31852243G>T	NCBI36
NG_012772.3:g.69627G>T , LRG_293:g.69627G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9217G>T	ENSP00000434898.2:p.Asp3073Tyr
ENST00000528762.2:c.*584G>T	ENSP00000433168.2:n.*584G>T
ENST00000530893.7:c.8848G>T	ENSP00000499438.2:p.Asp2950Tyr
ENST00000665585.2:c.*779G>T	ENSP00000499570.2:n.*779G>T
ENST00000666593.2:c.9217G>T	ENSP00000499256.2:p.Asp3073Tyr
ENST00000700202.2:c.9166G>T	ENSP00000514856.2:p.Asp3056Tyr
ENST00000700202.1:c.1633G>T	ENSP00000514856.1:p.Asp545Tyr
ENST00000700203.1:n.1344G>T
ENST00000380152.8:c.9217G>T MANE Select	ENSP00000369497.3:p.Asp3073Tyr
ENST00000544455.6:c.9217G>T	ENSP00000439902.1:p.Asp3073Tyr
ENST00000614259.2:c.9225G>T	ENSP00000506251.1:n.9225G>T
ENST00000665585.1:c.2095G>T
ENST00000666593.1:c.100G>T	ENSP00000499256.1:p.Asp34Tyr
ENST00000680887.1:c.9217G>T	ENSP00000505508.1:p.Asp3073Tyr
ENST00000380152.7:c.9217G>T	ENSP00000369497.3:p.Asp3073Tyr
ENST00000470094.1:c.174G>T
ENST00000544455.5:c.9217G>T	ENSP00000439902.1:p.Asp3073Tyr
NM_000059.3:c.9217G>T , LRG_293t1:c.9217G>T	NP_000050.2:p.Asp3073Tyr
XM_011535203.1:c.9217G>T	XP_011533505.1:p.Asp3073Tyr
XM_011535204.1:c.9121G>T	XP_011533506.1:p.Asp3041Tyr
NM_000059.4:c.9217G>T MANE Select	NP_000050.3:p.Asp3073Tyr