Canonical Allele Identifier: CA025907

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52718
• ClinVar RCV Id: RCV000257752 ; RCV002444505
• dbSNP Id: rs397508026
• MyVariant Identifiers: chr13:g.32953911_32953924del (hg19) ; chr13:g.32379774_32379787del (hg38)
• PubMed: PMID:12955716

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379774_32379787del , CM000675.2:g.32379774_32379787del	GRCh38
NC_000013.10:g.32953911_32953924del , CM000675.1:g.32953911_32953924del	GRCh37
NC_000013.9:g.31851911_31851924del	NCBI36
NG_012772.3:g.69295_69308del , LRG_293:g.69295_69308del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8978_8991del	ENSP00000434898.2:p.Ser2993PhefsTer20
ENST00000528762.2:c.*345_*358del	ENSP00000433168.2:n.*345_*358del
ENST00000530893.7:c.8609_8622del	ENSP00000499438.2:p.Ser2870PhefsTer20
ENST00000665585.2:c.*540_*553del	ENSP00000499570.2:n.*540_*553del
ENST00000666593.2:c.8978_8991del	ENSP00000499256.2:p.Ser2993PhefsTer20
ENST00000700202.2:c.8954-27_8954-14del	ENSP00000514856.2:n.8954-27_8954-14del
ENST00000700202.1:c.1421-27_1421-14del	ENSP00000514856.1:n.1421-27_1421-14del
ENST00000700203.1:n.1105_1118del
ENST00000380152.8:c.8978_8991del MANE Select	ENSP00000369497.3:p.Ser2993PhefsTer20
ENST00000544455.6:c.8978_8991del	ENSP00000439902.1:p.Ser2993PhefsTer20
ENST00000614259.2:c.8986_8999del	ENSP00000506251.1:n.8986_8999del
ENST00000665585.1:c.1856_1869del
ENST00000680887.1:c.8978_8991del	ENSP00000505508.1:p.Ser2993PhefsTer20
ENST00000380152.7:c.8978_8991del	ENSP00000369497.3:p.Ser2993PhefsTer20
ENST00000544455.5:c.8978_8991del	ENSP00000439902.1:p.Ser2993PhefsTer20
NM_000059.3:c.8978_8991del , LRG_293t1:c.8978_8991del	NP_000050.2:p.Ser2993PhefsTer20
XM_011535203.1:c.8978_8991del	XP_011533505.1:p.Ser2993PhefsTer20
XM_011535204.1:c.8882_8895del	XP_011533506.1:p.Ser2961PhefsTer20
XM_011535205.1:c.*16_*29del	XP_011533507.1:n.*16_*29del
NM_000059.4:c.8978_8991del MANE Select	NP_000050.3:p.Ser2993PhefsTer20