Canonical Allele Identifier: CA10575905

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 224454
• ClinVar RCV Id: RCV000240793 ; RCV000637659 ; RCV000777928 ; RCV003156232 ; RCV003607256 ; RCV003997695
• dbSNP Id: rs886037806
• gnomAD v2: 13-32900266-A-G
• gnomAD v4: 13-32326129-A-G
• MyVariant Identifiers: chr13:g.32900266A>G (hg19) ; chr13:g.32326129A>G (hg38)
• PubMed: PMID:27257965

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326129A>G , CM000675.2:g.32326129A>G	GRCh38
NC_000013.10:g.32900266A>G , CM000675.1:g.32900266A>G	GRCh37
NC_000013.9:g.31798266A>G	NCBI36
NG_012772.3:g.15650A>G , LRG_293:g.15650A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.454A>G	ENSP00000434898.2:p.Thr152Ala
ENST00000528762.2:c.454A>G	ENSP00000433168.2:p.Thr152Ala
ENST00000530893.7:c.85A>G	ENSP00000499438.2:p.Thr29Ala
ENST00000665585.2:c.454A>G	ENSP00000499570.2:p.Thr152Ala
ENST00000666593.2:c.454A>G	ENSP00000499256.2:p.Thr152Ala
ENST00000700202.2:c.454A>G	ENSP00000514856.2:p.Thr152Ala
ENST00000700200.1:n.325A>G
ENST00000700201.1:c.*233A>G	ENSP00000514855.1:n.*233A>G
ENST00000380152.8:c.454A>G MANE Select	ENSP00000369497.3:p.Thr152Ala
ENST00000544455.6:c.454A>G	ENSP00000439902.1:p.Thr152Ala
ENST00000614259.2:c.454A>G	ENSP00000506251.1:p.Thr152Ala
ENST00000680887.1:c.454A>G	ENSP00000505508.1:p.Thr152Ala
ENST00000380152.7:c.454A>G	ENSP00000369497.3:p.Thr152Ala
ENST00000530893.6:n.652A>G
ENST00000544455.5:c.454A>G	ENSP00000439902.1:p.Thr152Ala
ENST00000614259.1:n.454A>G
NM_000059.3:c.454A>G , LRG_293t1:c.454A>G	NP_000050.2:p.Thr152Ala
XM_011535203.1:c.454A>G	XP_011533505.1:p.Thr152Ala
XM_011535204.1:c.454A>G	XP_011533506.1:p.Thr152Ala
XM_011535205.1:c.454A>G	XP_011533507.1:p.Thr152Ala
NM_000059.4:c.454A>G MANE Select	NP_000050.3:p.Thr152Ala