Canonical Allele Identifier: CA337754

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 216263
• ClinVar RCV Id: RCV000198262 ; RCV001193200 ; RCV001589076 ; RCV002372186
• dbSNP Id: rs28897758
• MyVariant Identifiers: chr13:g.32968871T>C (hg19) ; chr13:g.32394734T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394734T>C , CM000675.2:g.32394734T>C	GRCh38
NC_000013.10:g.32968871T>C , CM000675.1:g.32968871T>C	GRCh37
NC_000013.9:g.31866871T>C	NCBI36
NG_012772.3:g.84255T>C , LRG_293:g.84255T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9302T>C	ENSP00000434898.2:p.Leu3101Pro
ENST00000528762.2:c.*669T>C	ENSP00000433168.2:n.*669T>C
ENST00000530893.7:c.8933T>C	ENSP00000499438.2:p.Leu2978Pro
ENST00000665585.2:c.*864T>C	ENSP00000499570.2:n.*864T>C
ENST00000666593.2:c.*147T>C	ENSP00000499256.2:n.*147T>C
ENST00000700202.2:c.9251T>C	ENSP00000514856.2:p.Leu3084Pro
ENST00000700202.1:c.1718T>C	ENSP00000514856.1:p.Leu573Pro
ENST00000700203.1:n.1429T>C
ENST00000380152.8:c.9302T>C MANE Select	ENSP00000369497.3:p.Leu3101Pro
ENST00000544455.6:c.9302T>C	ENSP00000439902.1:p.Leu3101Pro
ENST00000614259.2:c.9310T>C	ENSP00000506251.1:n.9310T>C
ENST00000665585.1:c.2180T>C
ENST00000666593.1:c.324T>C	ENSP00000499256.1:n.324T>C
ENST00000680887.1:c.9302T>C	ENSP00000505508.1:p.Leu3101Pro
ENST00000380152.7:c.9302T>C	ENSP00000369497.3:p.Leu3101Pro
ENST00000470094.1:c.259T>C
ENST00000544455.5:c.9302T>C	ENSP00000439902.1:p.Leu3101Pro
NM_000059.3:c.9302T>C , LRG_293t1:c.9302T>C	NP_000050.2:p.Leu3101Pro
XM_011535203.1:c.9302T>C	XP_011533505.1:p.Leu3101Pro
XM_011535204.1:c.9206T>C	XP_011533506.1:p.Leu3069Pro
NM_000059.4:c.9302T>C MANE Select	NP_000050.3:p.Leu3101Pro