Canonical Allele Identifier: CA387763595

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 491382
• ClinVar RCV Id: RCV000582090 ; RCV000691367 ; RCV004001325
• dbSNP Id: rs1555289789
• gnomAD v4: 13-32397000-C-T
• MyVariant Identifiers: chr13:g.32971137C>T (hg19) ; chr13:g.32397000C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32397000C>T , CM000675.2:g.32397000C>T	GRCh38
NC_000013.10:g.32971137C>T , CM000675.1:g.32971137C>T	GRCh37
NC_000013.9:g.31869137C>T	NCBI36
NG_012772.3:g.86521C>T , LRG_293:g.86521C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*127C>T	ENSP00000434898.2:n.*127C>T
ENST00000528762.2:c.*971C>T	ENSP00000433168.2:n.*971C>T
ENST00000530893.7:c.9235C>T	ENSP00000499438.2:p.Pro3079Ser
ENST00000665585.2:c.*1166C>T	ENSP00000499570.2:n.*1166C>T
ENST00000700202.2:c.9553C>T	ENSP00000514856.2:p.Pro3185Ser
ENST00000700202.1:c.2020C>T	ENSP00000514856.1:p.Pro674Ser
ENST00000700203.1:n.1731C>T
ENST00000380152.8:c.9604C>T MANE Select	ENSP00000369497.3:p.Pro3202Ser
ENST00000544455.6:c.9604C>T	ENSP00000439902.1:p.Pro3202Ser
ENST00000614259.2:c.9612C>T	ENSP00000506251.1:n.9612C>T
ENST00000665585.1:c.2482C>T
ENST00000680887.1:c.9604C>T	ENSP00000505508.1:p.Pro3202Ser
ENST00000380152.7:c.9604C>T	ENSP00000369497.3:p.Pro3202Ser
ENST00000470094.1:c.687C>T
ENST00000533776.1:n.192C>T
ENST00000544455.5:c.9604C>T	ENSP00000439902.1:p.Pro3202Ser
NM_000059.3:c.9604C>T , LRG_293t1:c.9604C>T	NP_000050.2:p.Pro3202Ser
XM_011535203.1:c.9604C>T	XP_011533505.1:p.Pro3202Ser
XM_011535204.1:c.9508C>T	XP_011533506.1:p.Pro3170Ser
NM_000059.4:c.9604C>T MANE Select	NP_000050.3:p.Pro3202Ser