Canonical Allele Identifier: CA247490419

Gene: BRCA2

Linked Data

• dbSNP Id: rs944053569
• gnomAD v3: 13-32376583-T-C
• gnomAD v4: 13-32376583-T-C
• MyVariant Identifiers: chr13:g.32950720T>C (hg19) ; chr13:g.32376583T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376583T>C , CM000675.2:g.32376583T>C	GRCh38
NC_000013.10:g.32950720T>C , CM000675.1:g.32950720T>C	GRCh37
NC_000013.9:g.31848720T>C	NCBI36
NG_012772.3:g.66104T>C , LRG_293:g.66104T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8633-87T>C	ENSP00000434898.2:n.8633-87T>C
ENST00000528762.2:c.8697-87T>C	ENSP00000433168.2:n.8697-87T>C
ENST00000530893.7:c.8264-87T>C	ENSP00000499438.2:n.8264-87T>C
ENST00000665585.2:c.*195-87T>C	ENSP00000499570.2:n.*195-87T>C
ENST00000666593.2:c.8633-87T>C	ENSP00000499256.2:n.8633-87T>C
ENST00000700202.2:c.8633-87T>C	ENSP00000514856.2:n.8633-87T>C
ENST00000700202.1:c.1100-87T>C	ENSP00000514856.1:n.1100-87T>C
ENST00000700203.1:n.673T>C
ENST00000380152.8:c.8633-87T>C MANE Select	ENSP00000369497.3:n.8633-87T>C
ENST00000544455.6:c.8633-87T>C	ENSP00000439902.1:n.8633-87T>C
ENST00000614259.2:c.8641-87T>C	ENSP00000506251.1:n.8641-87T>C
ENST00000665585.1:c.1511-87T>C
ENST00000680887.1:c.8633-87T>C	ENSP00000505508.1:n.8633-87T>C
ENST00000380152.7:c.8633-87T>C	ENSP00000369497.3:n.8633-87T>C
ENST00000528762.1:c.195-87T>C	ENSP00000433168.1:n.195-87T>C
ENST00000544455.5:c.8633-87T>C	ENSP00000439902.1:n.8633-87T>C
NM_000059.3:c.8633-87T>C , LRG_293t1:c.8633-87T>C	NP_000050.2:n.8633-87T>C
XM_011535203.1:c.8633-87T>C	XP_011533505.1:n.8633-87T>C
XM_011535204.1:c.8537-87T>C	XP_011533506.1:n.8537-87T>C
XM_011535205.1:c.8633-87T>C	XP_011533507.1:n.8633-87T>C
NM_000059.4:c.8633-87T>C MANE Select	NP_000050.3:n.8633-87T>C