Canonical Allele Identifier: CA387766609

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32972516T>C (hg19) ; chr13:g.32398379T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398379T>C , CM000675.2:g.32398379T>C	GRCh38
NC_000013.10:g.32972516T>C , CM000675.1:g.32972516T>C	GRCh37
NC_000013.9:g.31870516T>C	NCBI36
NG_012772.3:g.87900T>C , LRG_293:g.87900T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*389T>C	ENSP00000434898.2:n.*389T>C
ENST00000528762.2:c.*1233T>C	ENSP00000433168.2:n.*1233T>C
ENST00000530893.7:c.9497T>C	ENSP00000499438.2:p.Phe3166Ser
ENST00000665585.2:c.*1428T>C	ENSP00000499570.2:n.*1428T>C
ENST00000700202.2:c.9815T>C	ENSP00000514856.2:p.Phe3272Ser
ENST00000700202.1:c.2282T>C	ENSP00000514856.1:p.Phe761Ser
ENST00000700203.1:n.1993T>C
ENST00000380152.8:c.9866T>C MANE Select	ENSP00000369497.3:p.Phe3289Ser
ENST00000544455.6:c.9866T>C	ENSP00000439902.1:p.Phe3289Ser
ENST00000614259.2:c.9874T>C	ENSP00000506251.1:n.9874T>C
ENST00000680887.1:c.9866T>C	ENSP00000505508.1:p.Phe3289Ser
ENST00000380152.7:c.9866T>C	ENSP00000369497.3:p.Phe3289Ser
ENST00000533776.1:n.454T>C
ENST00000544455.5:c.9866T>C	ENSP00000439902.1:p.Phe3289Ser
NM_000059.3:c.9866T>C , LRG_293t1:c.9866T>C	NP_000050.2:p.Phe3289Ser
XM_011535203.1:c.9866T>C	XP_011533505.1:p.Phe3289Ser
XM_011535204.1:c.9770T>C	XP_011533506.1:p.Phe3257Ser
NM_000059.4:c.9866T>C MANE Select	NP_000050.3:p.Phe3289Ser