Canonical Allele Identifier: CA024036

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 141075
• ClinVar RCV Id: RCV000129424 ; RCV000480281 ; RCV000545796 ; RCV003997500
• dbSNP Id: rs587781476
• gnomAD v4: 13-32340794-C-T
• MyVariant Identifiers: chr13:g.32914931C>T (hg19) ; chr13:g.32340794C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32340794C>T , CM000675.2:g.32340794C>T	GRCh38
NC_000013.10:g.32914931C>T , CM000675.1:g.32914931C>T	GRCh37
NC_000013.9:g.31812931C>T	NCBI36
NG_012772.3:g.30315C>T , LRG_293:g.30315C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.6439C>T	ENSP00000434898.2:p.His2147Tyr
ENST00000528762.2:c.6439C>T	ENSP00000433168.2:p.His2147Tyr
ENST00000530893.7:c.6070C>T	ENSP00000499438.2:p.His2024Tyr
ENST00000665585.2:c.6439C>T	ENSP00000499570.2:p.His2147Tyr
ENST00000666593.2:c.6439C>T	ENSP00000499256.2:p.His2147Tyr
ENST00000700202.2:c.6439C>T	ENSP00000514856.2:p.His2147Tyr
ENST00000380152.8:c.6439C>T MANE Select	ENSP00000369497.3:p.His2147Tyr
ENST00000544455.6:c.6439C>T	ENSP00000439902.1:p.His2147Tyr
ENST00000614259.2:c.6439C>T	ENSP00000506251.1:p.His2147Tyr
ENST00000680887.1:c.6439C>T	ENSP00000505508.1:p.His2147Tyr
ENST00000380152.7:c.6439C>T	ENSP00000369497.3:p.His2147Tyr
ENST00000544455.5:c.6439C>T	ENSP00000439902.1:p.His2147Tyr
ENST00000614259.1:n.6439C>T
NM_000059.3:c.6439C>T , LRG_293t1:c.6439C>T	NP_000050.2:p.His2147Tyr
XM_011535203.1:c.6439C>T	XP_011533505.1:p.His2147Tyr
XM_011535204.1:c.6439C>T	XP_011533506.1:p.His2147Tyr
XM_011535205.1:c.6439C>T	XP_011533507.1:p.His2147Tyr
NM_000059.4:c.6439C>T MANE Select	NP_000050.3:p.His2147Tyr