Canonical Allele Identifier: CA387767931

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2124671
• ClinVar RCV Id: RCV003039730 ; RCV003332398
• dbSNP Id: rs2137666397
• MyVariant Identifiers: chr13:g.32972731C>T (hg19) ; chr13:g.32398594C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398594C>T , CM000675.2:g.32398594C>T	GRCh38
NC_000013.10:g.32972731C>T , CM000675.1:g.32972731C>T	GRCh37
NC_000013.9:g.31870731C>T	NCBI36
NG_012772.3:g.88115C>T , LRG_293:g.88115C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*604C>T	ENSP00000434898.2:n.*604C>T
ENST00000528762.2:c.*1448C>T	ENSP00000433168.2:n.*1448C>T
ENST00000530893.7:c.9712C>T	ENSP00000499438.2:p.Gln3238Ter
ENST00000665585.2:c.*1643C>T	ENSP00000499570.2:n.*1643C>T
ENST00000700202.2:c.10030C>T	ENSP00000514856.2:p.Gln3344Ter
ENST00000700202.1:c.2497C>T	ENSP00000514856.1:p.Gln833Ter
ENST00000700203.1:n.2208C>T
ENST00000380152.8:c.10081C>T MANE Select	ENSP00000369497.3:p.Gln3361Ter
ENST00000544455.6:c.10081C>T	ENSP00000439902.1:p.Gln3361Ter
ENST00000614259.2:c.10089C>T	ENSP00000506251.1:n.10089C>T
ENST00000680887.1:c.10081C>T	ENSP00000505508.1:p.Gln3361Ter
ENST00000380152.7:c.10081C>T	ENSP00000369497.3:p.Gln3361Ter
ENST00000544455.5:c.10081C>T	ENSP00000439902.1:p.Gln3361Ter
NM_000059.3:c.10081C>T , LRG_293t1:c.10081C>T	NP_000050.2:p.Gln3361Ter
XM_011535203.1:c.10081C>T	XP_011533505.1:p.Gln3361Ter
XM_011535204.1:c.9985C>T	XP_011533506.1:p.Gln3329Ter
NM_000059.4:c.10081C>T MANE Select	NP_000050.3:p.Gln3361Ter