Canonical Allele Identifier: CA016747

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51371
• ClinVar RCV Id: RCV000113364 ; RCV000204993 ; RCV000589249 ; RCV001016936 ; RCV003473321
• dbSNP Id: rs80359362
• gnomAD v2: 13-32893433-AAGAATT-A
• gnomAD v3: 13-32319296-AAGAATT-A
• gnomAD v4: 13-32319296-AAGAATT-A
• MyVariant Identifiers: chr13:g.32893437_32893442del (hg19) ; chr13:g.32893434_32893439del (hg19) ; chr13:g.32319300_32319305del (hg38) ; chr13:g.32319297_32319302del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319300_32319305del , CM000675.2:g.32319300_32319305del	GRCh38
NC_000013.10:g.32893437_32893442del , CM000675.1:g.32893437_32893442del	GRCh37
NC_000013.9:g.31791437_31791442del	NCBI36
NG_012772.3:g.8821_8826del , LRG_293:g.8821_8826del
NG_017006.2:g.1062_1067del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.291_296del	ENSP00000434898.2:p.Glu97_Leu98del
ENST00000528762.2:c.291_296del	ENSP00000433168.2:p.Glu97_Leu98del
ENST00000530893.7:c.-79_-74del	ENSP00000499438.2:n.-79_-74del
ENST00000665585.2:c.291_296del	ENSP00000499570.2:p.Glu97_Leu98del
ENST00000666593.2:c.291_296del	ENSP00000499256.2:p.Glu97_Leu98del
ENST00000700202.2:c.291_296del	ENSP00000514856.2:p.Glu97_Leu98del
ENST00000700200.1:n.191+2773_191+2778del
ENST00000700201.1:c.291_296del	ENSP00000514855.1:p.Glu97_Leu98del
ENST00000380152.8:c.291_296del MANE Select	ENSP00000369497.3:p.Glu97_Leu98del
ENST00000544455.6:c.291_296del	ENSP00000439902.1:p.Glu97_Leu98del
ENST00000614259.2:c.291_296del	ENSP00000506251.1:p.Glu97_Leu98del
ENST00000680887.1:c.291_296del	ENSP00000505508.1:p.Glu97_Leu98del
ENST00000380152.7:c.291_296del	ENSP00000369497.3:p.Glu97_Leu98del
ENST00000530893.6:n.489_494del
ENST00000544455.5:c.291_296del	ENSP00000439902.1:p.Glu97_Leu98del
ENST00000614259.1:n.291_296del
NM_000059.3:c.291_296del , LRG_293t1:c.291_296del	NP_000050.2:p.Glu97_Leu98del
XM_011535203.1:c.291_296del	XP_011533505.1:p.Glu97_Leu98del
XM_011535204.1:c.291_296del	XP_011533506.1:p.Glu97_Leu98del
XM_011535205.1:c.291_296del	XP_011533507.1:p.Glu97_Leu98del
NM_000059.4:c.291_296del MANE Select	NP_000050.3:p.Glu97_Leu98del