Canonical Allele Identifier: CA6941289

Gene: BRCA2

Linked Data

• dbSNP Id: rs774221827
• ExAC: 13:32950923 C / CTTGAGGTGAGAGAGTAAGAGGACATA
• gnomAD v2: 13-32950923-C-CTTGAGGTGAGAGAGTAAGAGGACATA
• MyVariant Identifiers: chr13:g.32950923_32950924insTTGAGGTGAGAGAGTAAGAGGACATA (hg19) ; chr13:g.32376786_32376787insTTGAGGTGAGAGAGTAAGAGGACATA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376788_32376813dup , CM000675.2:g.32376788_32376813dup	GRCh38
NC_000013.10:g.32950925_32950950dup , CM000675.1:g.32950925_32950950dup	GRCh37
NC_000013.9:g.31848925_31848950dup	NCBI36
NG_012772.3:g.66309_66334dup , LRG_293:g.66309_66334dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8751_8754+22dup
ENST00000528762.2:c.*118_*121+22dup
ENST00000530893.7:c.8382_8385+22dup
ENST00000665585.2:c.*313_*316+22dup
ENST00000666593.2:c.8751_8754+22dup
ENST00000700202.2:c.8751_8754+22dup
ENST00000700202.1:c.1218_1221+22dup
ENST00000700203.1:n.878_881+22dup
ENST00000380152.8:c.8751_8754+22dup
ENST00000544455.6:c.8751_8754+22dup
ENST00000614259.2:c.8759_8762+22dup
ENST00000665585.1:c.1629_1632+22dup
ENST00000680887.1:c.8751_8754+22dup
ENST00000380152.7:c.8751_8754+22dup
ENST00000528762.1:c.313_316+22dup
ENST00000544455.5:c.8751_8754+22dup
NM_000059.3:c.8751_8754+22dup , LRG_293t1:c.8751_8754+22dup
XM_011535203.1:c.8751_8754+22dup
XM_011535204.1:c.8655_8658+22dup
XM_011535205.1:c.8751_8754+22dup
NM_000059.4:c.8751_8754+22dup