Canonical Allele Identifier: CA10589439

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267022
• ClinVar RCV Id: RCV000257702
• dbSNP Id: rs80359664
• MyVariant Identifiers: chr13:g.32930694_32930697del (hg19) ; chr13:g.32356557_32356560del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32356557_32356560del , CM000675.2:g.32356557_32356560del	GRCh38
NC_000013.10:g.32930694_32930697del , CM000675.1:g.32930694_32930697del	GRCh37
NC_000013.9:g.31828694_31828697del	NCBI36
NG_012772.3:g.46078_46081del , LRG_293:g.46078_46081del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7565_7568del	ENSP00000434898.2:p.Ser2522Ter
ENST00000528762.2:c.7565_7568del	ENSP00000433168.2:p.Ser2522Ter
ENST00000530893.7:c.7196_7199del	ENSP00000499438.2:p.Ser2399Ter
ENST00000665585.2:c.7565_7568del	ENSP00000499570.2:p.Ser2522Ter
ENST00000666593.2:c.7565_7568del	ENSP00000499256.2:p.Ser2522Ter
ENST00000700202.2:c.7565_7568del	ENSP00000514856.2:p.Ser2522Ter
ENST00000700202.1:c.32_35del	ENSP00000514856.1:p.Ser11Ter
ENST00000380152.8:c.7565_7568del MANE Select	ENSP00000369497.3:p.Ser2522Ter
ENST00000544455.6:c.7565_7568del	ENSP00000439902.1:p.Ser2522Ter
ENST00000614259.2:c.7565_7568del	ENSP00000506251.1:p.Ser2522Ter
ENST00000665585.1:c.130_133del
ENST00000680887.1:c.7565_7568del	ENSP00000505508.1:p.Ser2522Ter
ENST00000380152.7:c.7565_7568del	ENSP00000369497.3:p.Ser2522Ter
ENST00000544455.5:c.7565_7568del	ENSP00000439902.1:p.Ser2522Ter
ENST00000614259.1:n.7565_7568del
NM_000059.3:c.7565_7568del , LRG_293t1:c.7565_7568del	NP_000050.2:p.Ser2522Ter
XM_011535203.1:c.7565_7568del	XP_011533505.1:p.Ser2522Ter
XM_011535204.1:c.7469_7472del	XP_011533506.1:p.Ser2490Ter
XM_011535205.1:c.7565_7568del	XP_011533507.1:p.Ser2522Ter
NM_000059.4:c.7565_7568del MANE Select	NP_000050.3:p.Ser2522Ter