Canonical Allele Identifier: CA387757371

Gene: BRCA2

Linked Data

• dbSNP Id: rs778052683
• gnomAD v2: 13-32953896-G-C
• gnomAD v4: 13-32379759-G-C
• MyVariant Identifiers: chr13:g.32953896G>C (hg19) ; chr13:g.32379759G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379759G>C , CM000675.2:g.32379759G>C	GRCh38
NC_000013.10:g.32953896G>C , CM000675.1:g.32953896G>C	GRCh37
NC_000013.9:g.31851896G>C	NCBI36
NG_012772.3:g.69280G>C , LRG_293:g.69280G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8963G>C	ENSP00000434898.2:p.Ser2988Thr
ENST00000528762.2:c.*330G>C	ENSP00000433168.2:n.*330G>C
ENST00000530893.7:c.8594G>C	ENSP00000499438.2:p.Ser2865Thr
ENST00000665585.2:c.*525G>C	ENSP00000499570.2:n.*525G>C
ENST00000666593.2:c.8963G>C	ENSP00000499256.2:p.Ser2988Thr
ENST00000700202.2:c.8954-42G>C	ENSP00000514856.2:n.8954-42G>C
ENST00000700202.1:c.1421-42G>C	ENSP00000514856.1:n.1421-42G>C
ENST00000700203.1:n.1090G>C
ENST00000380152.8:c.8963G>C MANE Select	ENSP00000369497.3:p.Ser2988Thr
ENST00000544455.6:c.8963G>C	ENSP00000439902.1:p.Ser2988Thr
ENST00000614259.2:c.8971G>C	ENSP00000506251.1:n.8971G>C
ENST00000665585.1:c.1841G>C
ENST00000680887.1:c.8963G>C	ENSP00000505508.1:p.Ser2988Thr
ENST00000380152.7:c.8963G>C	ENSP00000369497.3:p.Ser2988Thr
ENST00000544455.5:c.8963G>C	ENSP00000439902.1:p.Ser2988Thr
NM_000059.3:c.8963G>C , LRG_293t1:c.8963G>C	NP_000050.2:p.Ser2988Thr
XM_011535203.1:c.8963G>C	XP_011533505.1:p.Ser2988Thr
XM_011535204.1:c.8867G>C	XP_011533506.1:p.Ser2956Thr
XM_011535205.1:c.*1G>C	XP_011533507.1:n.*1G>C
NM_000059.4:c.8963G>C MANE Select	NP_000050.3:p.Ser2988Thr