Canonical Allele Identifier: CA387760739

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 802955
• ClinVar RCV Id: RCV000989084 ; RCV001221484
• dbSNP Id: rs1593199583
• MyVariant Identifiers: chr13:g.32968834C>T (hg19) ; chr13:g.32394697C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394697C>T , CM000675.2:g.32394697C>T	GRCh38
NC_000013.10:g.32968834C>T , CM000675.1:g.32968834C>T	GRCh37
NC_000013.9:g.31866834C>T	NCBI36
NG_012772.3:g.84218C>T , LRG_293:g.84218C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9265C>T	ENSP00000434898.2:p.Pro3089Ser
ENST00000528762.2:c.*632C>T	ENSP00000433168.2:n.*632C>T
ENST00000530893.7:c.8896C>T	ENSP00000499438.2:p.Pro2966Ser
ENST00000665585.2:c.*827C>T	ENSP00000499570.2:n.*827C>T
ENST00000666593.2:c.*110C>T	ENSP00000499256.2:n.*110C>T
ENST00000700202.2:c.9214C>T	ENSP00000514856.2:p.Pro3072Ser
ENST00000700202.1:c.1681C>T	ENSP00000514856.1:p.Pro561Ser
ENST00000700203.1:n.1392C>T
ENST00000380152.8:c.9265C>T MANE Select	ENSP00000369497.3:p.Pro3089Ser
ENST00000544455.6:c.9265C>T	ENSP00000439902.1:p.Pro3089Ser
ENST00000614259.2:c.9273C>T	ENSP00000506251.1:n.9273C>T
ENST00000665585.1:c.2143C>T
ENST00000666593.1:c.287C>T	ENSP00000499256.1:n.287C>T
ENST00000680887.1:c.9265C>T	ENSP00000505508.1:p.Pro3089Ser
ENST00000380152.7:c.9265C>T	ENSP00000369497.3:p.Pro3089Ser
ENST00000470094.1:c.222C>T
ENST00000544455.5:c.9265C>T	ENSP00000439902.1:p.Pro3089Ser
NM_000059.3:c.9265C>T , LRG_293t1:c.9265C>T	NP_000050.2:p.Pro3089Ser
XM_011535203.1:c.9265C>T	XP_011533505.1:p.Pro3089Ser
XM_011535204.1:c.9169C>T	XP_011533506.1:p.Pro3057Ser
NM_000059.4:c.9265C>T MANE Select	NP_000050.3:p.Pro3089Ser