Canonical Allele Identifier: CA387765114

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1767704
• ClinVar RCV Id: RCV002376519
• MyVariant Identifiers: chr13:g.32972311A>C (hg19) ; chr13:g.32398174A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398174A>C , CM000675.2:g.32398174A>C	GRCh38
NC_000013.10:g.32972311A>C , CM000675.1:g.32972311A>C	GRCh37
NC_000013.9:g.31870311A>C	NCBI36
NG_012772.3:g.87695A>C , LRG_293:g.87695A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*184A>C	ENSP00000434898.2:n.*184A>C
ENST00000528762.2:c.*1028A>C	ENSP00000433168.2:n.*1028A>C
ENST00000530893.7:c.9292A>C	ENSP00000499438.2:p.Asn3098His
ENST00000665585.2:c.*1223A>C	ENSP00000499570.2:n.*1223A>C
ENST00000700202.2:c.9610A>C	ENSP00000514856.2:p.Asn3204His
ENST00000700202.1:c.2077A>C	ENSP00000514856.1:p.Asn693His
ENST00000700203.1:n.1788A>C
ENST00000380152.8:c.9661A>C MANE Select	ENSP00000369497.3:p.Asn3221His
ENST00000544455.6:c.9661A>C	ENSP00000439902.1:p.Asn3221His
ENST00000614259.2:c.9669A>C	ENSP00000506251.1:n.9669A>C
ENST00000665585.1:c.2539A>C
ENST00000680887.1:c.9661A>C	ENSP00000505508.1:p.Asn3221His
ENST00000380152.7:c.9661A>C	ENSP00000369497.3:p.Asn3221His
ENST00000470094.1:c.744A>C
ENST00000533776.1:n.249A>C
ENST00000544455.5:c.9661A>C	ENSP00000439902.1:p.Asn3221His
NM_000059.3:c.9661A>C , LRG_293t1:c.9661A>C	NP_000050.2:p.Asn3221His
XM_011535203.1:c.9661A>C	XP_011533505.1:p.Asn3221His
XM_011535204.1:c.9565A>C	XP_011533506.1:p.Asn3189His
NM_000059.4:c.9661A>C MANE Select	NP_000050.3:p.Asn3221His