Canonical Allele Identifier: CA026119

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38233
• ClinVar RCV Id: RCV000031816 ; RCV000045802 ; RCV000130337 ; RCV000505786 ; RCV000585706 ; RCV001271066 ; RCV001310163 ; RCV001353921
• dbSNP Id: rs28897759
• ExAC: 13:32968940 A / T
• gnomAD v2: 13-32968940-A-T
• gnomAD v3: 13-32394803-A-T
• gnomAD v4: 13-32394803-A-T
• MyVariant Identifiers: chr13:g.32968940A>T (hg19) ; chr13:g.32394803A>T (hg38)
• PubMed: PMID:10923033 ; PMID:11102977 ; PMID:11139248 ; PMID:11452040 ; PMID:11802209 ; PMID:14555518 ; PMID:16284991 ; PMID:18703817 ; PMID:18724707 ; PMID:19043619 ; PMID:19372713 ; PMID:20383589 ; PMID:21120943 ; PMID:21232165 ; PMID:21965345 ; PMID:21990134 ; PMID:22366370 ; PMID:22678057 ; PMID:22729890 ; PMID:23108138 ; PMID:23583677 ; PMID:24323938 ; PMID:24728577 ; PMID:25085752 ; PMID:25452441 ; PMID:25782689 ; PMID:25948282 ; PMID:26219265 ; PMID:26689913 ; PMID:26786923 ; PMID:26843898 ; PMID:27616075 ; PMID:28324225

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394803A>T , CM000675.2:g.32394803A>T	GRCh38
NC_000013.10:g.32968940A>T , CM000675.1:g.32968940A>T	GRCh37
NC_000013.9:g.31866940A>T	NCBI36
NG_012772.3:g.84324A>T , LRG_293:g.84324A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9371A>T	ENSP00000434898.2:p.Asn3124Ile
ENST00000528762.2:c.*738A>T	ENSP00000433168.2:n.*738A>T
ENST00000530893.7:c.9002A>T	ENSP00000499438.2:p.Asn3001Ile
ENST00000665585.2:c.*933A>T	ENSP00000499570.2:n.*933A>T
ENST00000666593.2:c.*216A>T	ENSP00000499256.2:n.*216A>T
ENST00000700202.2:c.9320A>T	ENSP00000514856.2:p.Asn3107Ile
ENST00000700202.1:c.1787A>T	ENSP00000514856.1:p.Asn596Ile
ENST00000700203.1:n.1498A>T
ENST00000380152.8:c.9371A>T MANE Select	ENSP00000369497.3:p.Asn3124Ile
ENST00000544455.6:c.9371A>T	ENSP00000439902.1:p.Asn3124Ile
ENST00000614259.2:c.9379A>T	ENSP00000506251.1:n.9379A>T
ENST00000665585.1:c.2249A>T
ENST00000666593.1:c.393A>T	ENSP00000499256.1:n.393A>T
ENST00000680887.1:c.9371A>T	ENSP00000505508.1:p.Asn3124Ile
ENST00000380152.7:c.9371A>T	ENSP00000369497.3:p.Asn3124Ile
ENST00000470094.1:c.328A>T
ENST00000544455.5:c.9371A>T	ENSP00000439902.1:p.Asn3124Ile
NM_000059.3:c.9371A>T , LRG_293t1:c.9371A>T	NP_000050.2:p.Asn3124Ile
XM_011535203.1:c.9371A>T	XP_011533505.1:p.Asn3124Ile
XM_011535204.1:c.9275A>T	XP_011533506.1:p.Asn3092Ile
NM_000059.4:c.9371A>T MANE Select	NP_000050.3:p.Asn3124Ile