Canonical Allele Identifier: CA247510114

Gene: BRCA2

Linked Data

• dbSNP Id: rs1026859271
• gnomAD v3: 13-32399168-T-C
• gnomAD v4: 13-32399168-T-C
• MyVariant Identifiers: chr13:g.32973305T>C (hg19) ; chr13:g.32399168T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32399168T>C , CM000675.2:g.32399168T>C	GRCh38
NC_000013.10:g.32973305T>C , CM000675.1:g.32973305T>C	GRCh37
NC_000013.9:g.31871305T>C	NCBI36
NG_012772.3:g.88689T>C , LRG_293:g.88689T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*1178T>C	ENSP00000434898.2:n.*1178T>C
ENST00000530893.7:c.*398T>C	ENSP00000499438.2:n.*398T>C
ENST00000380152.8:c.*398T>C MANE Select	ENSP00000369497.3:n.*398T>C
ENST00000544455.6:c.*398T>C	ENSP00000439902.1:n.*398T>C
ENST00000614259.2:c.10663T>C	ENSP00000506251.1:n.10663T>C
ENST00000680887.1:c.*398T>C	ENSP00000505508.1:n.*398T>C
ENST00000380152.7:c.*398T>C	ENSP00000369497.3:n.*398T>C
ENST00000544455.5:c.*398T>C	ENSP00000439902.1:n.*398T>C
NM_000059.3:c.*398T>C , LRG_293t1:c.*398T>C	NP_000050.2:n.*398T>C
XM_011535203.1:c.*398T>C	XP_011533505.1:n.*398T>C
XM_011535204.1:c.*398T>C	XP_011533506.1:n.*398T>C
NM_000059.4:c.*398T>C MANE Select	NP_000050.3:n.*398T>C