Canonical Allele Identifier: CA387765659

Gene: BRCA2

Linked Data

• dbSNP Id: rs1173590589
• gnomAD v2: 13-32972398-T-G
• gnomAD v4: 13-32398261-T-G
• MyVariant Identifiers: chr13:g.32972398T>G (hg19) ; chr13:g.32398261T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398261T>G , CM000675.2:g.32398261T>G	GRCh38
NC_000013.10:g.32972398T>G , CM000675.1:g.32972398T>G	GRCh37
NC_000013.9:g.31870398T>G	NCBI36
NG_012772.3:g.87782T>G , LRG_293:g.87782T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*271T>G	ENSP00000434898.2:n.*271T>G
ENST00000528762.2:c.*1115T>G	ENSP00000433168.2:n.*1115T>G
ENST00000530893.7:c.9379T>G	ENSP00000499438.2:p.Ser3127Ala
ENST00000665585.2:c.*1310T>G	ENSP00000499570.2:n.*1310T>G
ENST00000700202.2:c.9697T>G	ENSP00000514856.2:p.Ser3233Ala
ENST00000700202.1:c.2164T>G	ENSP00000514856.1:p.Ser722Ala
ENST00000700203.1:n.1875T>G
ENST00000380152.8:c.9748T>G MANE Select	ENSP00000369497.3:p.Ser3250Ala
ENST00000544455.6:c.9748T>G	ENSP00000439902.1:p.Ser3250Ala
ENST00000614259.2:c.9756T>G	ENSP00000506251.1:n.9756T>G
ENST00000680887.1:c.9748T>G	ENSP00000505508.1:p.Ser3250Ala
ENST00000380152.7:c.9748T>G	ENSP00000369497.3:p.Ser3250Ala
ENST00000470094.1:c.831T>G
ENST00000533776.1:n.336T>G
ENST00000544455.5:c.9748T>G	ENSP00000439902.1:p.Ser3250Ala
NM_000059.3:c.9748T>G , LRG_293t1:c.9748T>G	NP_000050.2:p.Ser3250Ala
XM_011535203.1:c.9748T>G	XP_011533505.1:p.Ser3250Ala
XM_011535204.1:c.9652T>G	XP_011533506.1:p.Ser3218Ala
NM_000059.4:c.9748T>G MANE Select	NP_000050.3:p.Ser3250Ala