Canonical Allele Identifier: CA387755899

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 3229449
• ClinVar RCV Id: RCV004525027
• dbSNP Id: rs2137619222
• MyVariant Identifiers: chr13:g.32953487A>T (hg19) ; chr13:g.32379350A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379350A>T , CM000675.2:g.32379350A>T	GRCh38
NC_000013.10:g.32953487A>T , CM000675.1:g.32953487A>T	GRCh37
NC_000013.9:g.31851487A>T	NCBI36
NG_012772.3:g.68871A>T , LRG_293:g.68871A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8788A>T	ENSP00000434898.2:p.Asn2930Tyr
ENST00000528762.2:c.*155A>T	ENSP00000433168.2:n.*155A>T
ENST00000530893.7:c.8419A>T	ENSP00000499438.2:p.Asn2807Tyr
ENST00000665585.2:c.*350A>T	ENSP00000499570.2:n.*350A>T
ENST00000666593.2:c.8788A>T	ENSP00000499256.2:p.Asn2930Tyr
ENST00000700202.2:c.8788A>T	ENSP00000514856.2:p.Asn2930Tyr
ENST00000700202.1:c.1255A>T	ENSP00000514856.1:p.Asn419Tyr
ENST00000700203.1:n.915A>T
ENST00000380152.8:c.8788A>T MANE Select	ENSP00000369497.3:p.Asn2930Tyr
ENST00000544455.6:c.8788A>T	ENSP00000439902.1:p.Asn2930Tyr
ENST00000614259.2:c.8796A>T	ENSP00000506251.1:n.8796A>T
ENST00000665585.1:c.1666A>T
ENST00000680887.1:c.8788A>T	ENSP00000505508.1:p.Asn2930Tyr
ENST00000380152.7:c.8788A>T	ENSP00000369497.3:p.Asn2930Tyr
ENST00000528762.1:c.350A>T	ENSP00000433168.1:n.350A>T
ENST00000544455.5:c.8788A>T	ENSP00000439902.1:p.Asn2930Tyr
NM_000059.3:c.8788A>T , LRG_293t1:c.8788A>T	NP_000050.2:p.Asn2930Tyr
XM_011535203.1:c.8788A>T	XP_011533505.1:p.Asn2930Tyr
XM_011535204.1:c.8692A>T	XP_011533506.1:p.Asn2898Tyr
XM_011535205.1:c.8755-400A>T	XP_011533507.1:n.8755-400A>T
NM_000059.4:c.8788A>T MANE Select	NP_000050.3:p.Asn2930Tyr