Canonical Allele Identifier: CA387766401

Gene: BRCA2

Linked Data

• dbSNP Id: rs80359246
• gnomAD v4: 13-32398352-C-T
• MyVariant Identifiers: chr13:g.32972489C>T (hg19) ; chr13:g.32398352C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398352C>T , CM000675.2:g.32398352C>T	GRCh38
NC_000013.10:g.32972489C>T , CM000675.1:g.32972489C>T	GRCh37
NC_000013.9:g.31870489C>T	NCBI36
NG_012772.3:g.87873C>T , LRG_293:g.87873C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*362C>T	ENSP00000434898.2:n.*362C>T
ENST00000528762.2:c.*1206C>T	ENSP00000433168.2:n.*1206C>T
ENST00000530893.7:c.9470C>T	ENSP00000499438.2:p.Pro3157Leu
ENST00000665585.2:c.*1401C>T	ENSP00000499570.2:n.*1401C>T
ENST00000700202.2:c.9788C>T	ENSP00000514856.2:p.Pro3263Leu
ENST00000700202.1:c.2255C>T	ENSP00000514856.1:p.Pro752Leu
ENST00000700203.1:n.1966C>T
ENST00000380152.8:c.9839C>T MANE Select	ENSP00000369497.3:p.Pro3280Leu
ENST00000544455.6:c.9839C>T	ENSP00000439902.1:p.Pro3280Leu
ENST00000614259.2:c.9847C>T	ENSP00000506251.1:n.9847C>T
ENST00000680887.1:c.9839C>T	ENSP00000505508.1:p.Pro3280Leu
ENST00000380152.7:c.9839C>T	ENSP00000369497.3:p.Pro3280Leu
ENST00000533776.1:n.427C>T
ENST00000544455.5:c.9839C>T	ENSP00000439902.1:p.Pro3280Leu
NM_000059.3:c.9839C>T , LRG_293t1:c.9839C>T	NP_000050.2:p.Pro3280Leu
XM_011535203.1:c.9839C>T	XP_011533505.1:p.Pro3280Leu
XM_011535204.1:c.9743C>T	XP_011533506.1:p.Pro3248Leu
NM_000059.4:c.9839C>T MANE Select	NP_000050.3:p.Pro3280Leu