Canonical Allele Identifier: CA6940449

Gene: BRCA2

Linked Data

• dbSNP Id: rs765056110
• ExAC: 13:32905201 T / TTTG
• gnomAD v2: 13-32905201-T-TTTG
• gnomAD v3: 13-32331064-T-TTTG
• gnomAD v4: 13-32331064-T-TTTG
• MyVariant Identifiers: chr13:g.32905204_32905205insTTG (hg19) ; chr13:g.32905201_32905202insTTG (hg19) ; chr13:g.32331067_32331068insTTG (hg38) ; chr13:g.32331064_32331065insTTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32331076_32331078dup , CM000675.2:g.32331076_32331078dup	GRCh38
NC_000013.10:g.32905213_32905215dup , CM000675.1:g.32905213_32905215dup	GRCh37
NC_000013.9:g.31803213_31803215dup	NCBI36
NG_012772.3:g.20597_20599dup , LRG_293:g.20597_20599dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.793+46_793+48dup	ENSP00000434898.2:n.793+46_793+48dup
ENST00000528762.2:c.793+46_793+48dup	ENSP00000433168.2:n.793+46_793+48dup
ENST00000530893.7:c.424+46_424+48dup	ENSP00000499438.2:n.424+46_424+48dup
ENST00000665585.2:c.793+46_793+48dup	ENSP00000499570.2:n.793+46_793+48dup
ENST00000666593.2:c.793+46_793+48dup	ENSP00000499256.2:n.793+46_793+48dup
ENST00000700202.2:c.793+46_793+48dup	ENSP00000514856.2:n.793+46_793+48dup
ENST00000700201.1:c.*572+46_*572+48dup	ENSP00000514855.1:n.*572+46_*572+48dup
ENST00000380152.8:c.793+46_793+48dup MANE Select	ENSP00000369497.3:n.793+46_793+48dup
ENST00000544455.6:c.793+46_793+48dup	ENSP00000439902.1:n.793+46_793+48dup
ENST00000614259.2:c.793+46_793+48dup	ENSP00000506251.1:n.793+46_793+48dup
ENST00000680887.1:c.793+46_793+48dup	ENSP00000505508.1:n.793+46_793+48dup
ENST00000380152.7:c.793+46_793+48dup	ENSP00000369497.3:n.793+46_793+48dup
ENST00000530893.6:n.991+46_991+48dup
ENST00000544455.5:c.793+46_793+48dup	ENSP00000439902.1:n.793+46_793+48dup
ENST00000614259.1:n.793+46_793+48dup
NM_000059.3:c.793+46_793+48dup , LRG_293t1:c.793+46_793+48dup	NP_000050.2:n.793+46_793+48dup
XM_011535203.1:c.793+46_793+48dup	XP_011533505.1:n.793+46_793+48dup
XM_011535204.1:c.793+46_793+48dup	XP_011533506.1:n.793+46_793+48dup
XM_011535205.1:c.793+46_793+48dup	XP_011533507.1:n.793+46_793+48dup
NM_000059.4:c.793+46_793+48dup MANE Select	NP_000050.3:n.793+46_793+48dup