Canonical Allele Identifier: CA954688127

Gene: BRCA2

Linked Data

• dbSNP Id: rs2072258570
• gnomAD v3: 13-32316340-TC-T
• gnomAD v4: 13-32316340-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32316342del , CM000675.2:g.32316342del	GRCh38
NC_000013.10:g.32890479del , CM000675.1:g.32890479del	GRCh37
NC_000013.9:g.31788479del	NCBI36
NG_012772.3:g.5863del , LRG_293:g.5863del
NG_017006.1:g.614del
NG_017006.2:g.4023del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.-39-80del	ENSP00000434898.2:n.-39-80del
ENST00000528762.2:c.-39-80del	ENSP00000433168.2:n.-39-80del
ENST00000530893.7:c.-404-80del	ENSP00000499438.2:n.-404-80del
ENST00000665585.2:c.-39-80del	ENSP00000499570.2:n.-39-80del
ENST00000666593.2:c.-39-80del	ENSP00000499256.2:n.-39-80del
ENST00000700202.2:c.-39-80del	ENSP00000514856.2:n.-39-80del
ENST00000700199.1:n.86-80del
ENST00000700200.1:n.86-80del
ENST00000700201.1:c.-39-80del	ENSP00000514855.1:n.-39-80del
ENST00000380152.8:c.-39-80del MANE Select	ENSP00000369497.3:n.-39-80del
ENST00000544455.6:c.-39-80del	ENSP00000439902.1:n.-39-80del
ENST00000680887.1:c.-39-80del	ENSP00000505508.1:n.-39-80del
ENST00000380152.7:c.-39-80del	ENSP00000369497.3:n.-39-80del
ENST00000530893.6:n.164-80del
ENST00000544455.5:c.-39-80del	ENSP00000439902.1:n.-39-80del
NM_000059.3:c.-39-80del , LRG_293t1:c.-39-80del	NP_000050.2:n.-39-80del
XM_011535203.1:c.-39-80del	XP_011533505.1:n.-39-80del
XM_011535204.1:c.-39-80del	XP_011533506.1:n.-39-80del
XM_011535205.1:c.-39-80del	XP_011533507.1:n.-39-80del
NM_000059.4:c.-39-80del MANE Select	NP_000050.3:n.-39-80del