Canonical Allele Identifier: CA387767384

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 439024
• ClinVar RCV Id: RCV000508391 ; RCV000565180 ; RCV001210237
• dbSNP Id: rs1300220263
• MyVariant Identifiers: chr13:g.32972608C>T (hg19) ; chr13:g.32398471C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398471C>T , CM000675.2:g.32398471C>T	GRCh38
NC_000013.10:g.32972608C>T , CM000675.1:g.32972608C>T	GRCh37
NC_000013.9:g.31870608C>T	NCBI36
NG_012772.3:g.87992C>T , LRG_293:g.87992C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*481C>T	ENSP00000434898.2:n.*481C>T
ENST00000528762.2:c.*1325C>T	ENSP00000433168.2:n.*1325C>T
ENST00000530893.7:c.9589C>T	ENSP00000499438.2:p.Pro3197Ser
ENST00000665585.2:c.*1520C>T	ENSP00000499570.2:n.*1520C>T
ENST00000700202.2:c.9907C>T	ENSP00000514856.2:p.Pro3303Ser
ENST00000700202.1:c.2374C>T	ENSP00000514856.1:p.Pro792Ser
ENST00000700203.1:n.2085C>T
ENST00000380152.8:c.9958C>T MANE Select	ENSP00000369497.3:p.Pro3320Ser
ENST00000544455.6:c.9958C>T	ENSP00000439902.1:p.Pro3320Ser
ENST00000614259.2:c.9966C>T	ENSP00000506251.1:n.9966C>T
ENST00000680887.1:c.9958C>T	ENSP00000505508.1:p.Pro3320Ser
ENST00000380152.7:c.9958C>T	ENSP00000369497.3:p.Pro3320Ser
ENST00000544455.5:c.9958C>T	ENSP00000439902.1:p.Pro3320Ser
NM_000059.3:c.9958C>T , LRG_293t1:c.9958C>T	NP_000050.2:p.Pro3320Ser
XM_011535203.1:c.9958C>T	XP_011533505.1:p.Pro3320Ser
XM_011535204.1:c.9862C>T	XP_011533506.1:p.Pro3288Ser
NM_000059.4:c.9958C>T MANE Select	NP_000050.3:p.Pro3320Ser