Canonical Allele Identifier: CA6941454

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 427430
• ClinVar RCV Id: RCV000495205 ; RCV002383941
• dbSNP Id: rs774410550
• ExAC: 13:32972559 T / C
• gnomAD v2: 13-32972559-T-C
• gnomAD v4: 13-32398422-T-C
• MyVariant Identifiers: chr13:g.32972559T>C (hg19) ; chr13:g.32398422T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398422T>C , CM000675.2:g.32398422T>C	GRCh38
NC_000013.10:g.32972559T>C , CM000675.1:g.32972559T>C	GRCh37
NC_000013.9:g.31870559T>C	NCBI36
NG_012772.3:g.87943T>C , LRG_293:g.87943T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*432T>C	ENSP00000434898.2:n.*432T>C
ENST00000528762.2:c.*1276T>C	ENSP00000433168.2:n.*1276T>C
ENST00000530893.7:c.9540T>C	ENSP00000499438.2:p.Ser3180=
ENST00000665585.2:c.*1471T>C	ENSP00000499570.2:n.*1471T>C
ENST00000700202.2:c.9858T>C	ENSP00000514856.2:p.Ser3286=
ENST00000700202.1:c.2325T>C	ENSP00000514856.1:p.Ser775=
ENST00000700203.1:n.2036T>C
ENST00000380152.8:c.9909T>C MANE Select	ENSP00000369497.3:p.Ser3303=
ENST00000544455.6:c.9909T>C	ENSP00000439902.1:p.Ser3303=
ENST00000614259.2:c.9917T>C	ENSP00000506251.1:n.9917T>C
ENST00000680887.1:c.9909T>C	ENSP00000505508.1:p.Ser3303=
ENST00000380152.7:c.9909T>C	ENSP00000369497.3:p.Ser3303=
ENST00000533776.1:n.497T>C
ENST00000544455.5:c.9909T>C	ENSP00000439902.1:p.Ser3303=
NM_000059.3:c.9909T>C , LRG_293t1:c.9909T>C	NP_000050.2:p.Ser3303=
XM_011535203.1:c.9909T>C	XP_011533505.1:p.Ser3303=
XM_011535204.1:c.9813T>C	XP_011533506.1:p.Ser3271=
NM_000059.4:c.9909T>C MANE Select	NP_000050.3:p.Ser3303=