Canonical Allele Identifier: CA387761043

Gene: BRCA2

Linked Data

• dbSNP Id: rs1555289545
• MyVariant Identifiers: chr13:g.32968909A>C (hg19) ; chr13:g.32394772A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394772A>C , CM000675.2:g.32394772A>C	GRCh38
NC_000013.10:g.32968909A>C , CM000675.1:g.32968909A>C	GRCh37
NC_000013.9:g.31866909A>C	NCBI36
NG_012772.3:g.84293A>C , LRG_293:g.84293A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9340A>C	ENSP00000434898.2:p.Ile3114Leu
ENST00000528762.2:c.*707A>C	ENSP00000433168.2:n.*707A>C
ENST00000530893.7:c.8971A>C	ENSP00000499438.2:p.Ile2991Leu
ENST00000665585.2:c.*902A>C	ENSP00000499570.2:n.*902A>C
ENST00000666593.2:c.*185A>C	ENSP00000499256.2:n.*185A>C
ENST00000700202.2:c.9289A>C	ENSP00000514856.2:p.Ile3097Leu
ENST00000700202.1:c.1756A>C	ENSP00000514856.1:p.Ile586Leu
ENST00000700203.1:n.1467A>C
ENST00000380152.8:c.9340A>C MANE Select	ENSP00000369497.3:p.Ile3114Leu
ENST00000544455.6:c.9340A>C	ENSP00000439902.1:p.Ile3114Leu
ENST00000614259.2:c.9348A>C	ENSP00000506251.1:n.9348A>C
ENST00000665585.1:c.2218A>C
ENST00000666593.1:c.362A>C	ENSP00000499256.1:n.362A>C
ENST00000680887.1:c.9340A>C	ENSP00000505508.1:p.Ile3114Leu
ENST00000380152.7:c.9340A>C	ENSP00000369497.3:p.Ile3114Leu
ENST00000470094.1:c.297A>C
ENST00000544455.5:c.9340A>C	ENSP00000439902.1:p.Ile3114Leu
NM_000059.3:c.9340A>C , LRG_293t1:c.9340A>C	NP_000050.2:p.Ile3114Leu
XM_011535203.1:c.9340A>C	XP_011533505.1:p.Ile3114Leu
XM_011535204.1:c.9244A>C	XP_011533506.1:p.Ile3082Leu
NM_000059.4:c.9340A>C MANE Select	NP_000050.3:p.Ile3114Leu