Canonical Allele Identifier: CA387767718

Gene: BRCA2

Linked Data

• dbSNP Id: rs768567428
• MyVariant Identifiers: chr13:g.32972665A>T (hg19) ; chr13:g.32398528A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398528A>T , CM000675.2:g.32398528A>T	GRCh38
NC_000013.10:g.32972665A>T , CM000675.1:g.32972665A>T	GRCh37
NC_000013.9:g.31870665A>T	NCBI36
NG_012772.3:g.88049A>T , LRG_293:g.88049A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*538A>T	ENSP00000434898.2:n.*538A>T
ENST00000528762.2:c.*1382A>T	ENSP00000433168.2:n.*1382A>T
ENST00000530893.7:c.9646A>T	ENSP00000499438.2:p.Ile3216Leu
ENST00000665585.2:c.*1577A>T	ENSP00000499570.2:n.*1577A>T
ENST00000700202.2:c.9964A>T	ENSP00000514856.2:p.Ile3322Leu
ENST00000700202.1:c.2431A>T	ENSP00000514856.1:p.Ile811Leu
ENST00000700203.1:n.2142A>T
ENST00000380152.8:c.10015A>T MANE Select	ENSP00000369497.3:p.Ile3339Leu
ENST00000544455.6:c.10015A>T	ENSP00000439902.1:p.Ile3339Leu
ENST00000614259.2:c.10023A>T	ENSP00000506251.1:n.10023A>T
ENST00000680887.1:c.10015A>T	ENSP00000505508.1:p.Ile3339Leu
ENST00000380152.7:c.10015A>T	ENSP00000369497.3:p.Ile3339Leu
ENST00000544455.5:c.10015A>T	ENSP00000439902.1:p.Ile3339Leu
NM_000059.3:c.10015A>T , LRG_293t1:c.10015A>T	NP_000050.2:p.Ile3339Leu
XM_011535203.1:c.10015A>T	XP_011533505.1:p.Ile3339Leu
XM_011535204.1:c.9919A>T	XP_011533506.1:p.Ile3307Leu
NM_000059.4:c.10015A>T MANE Select	NP_000050.3:p.Ile3339Leu