Canonical Allele Identifier: CA387758213

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 479341
• ClinVar RCV Id: RCV000567520 ; RCV003645026
• dbSNP Id: rs1555288546
• MyVariant Identifiers: chr13:g.32954219T>G (hg19) ; chr13:g.32380082T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380082T>G , CM000675.2:g.32380082T>G	GRCh38
NC_000013.10:g.32954219T>G , CM000675.1:g.32954219T>G	GRCh37
NC_000013.9:g.31852219T>G	NCBI36
NG_012772.3:g.69603T>G , LRG_293:g.69603T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9193T>G	ENSP00000434898.2:p.Phe3065Val
ENST00000528762.2:c.*560T>G	ENSP00000433168.2:n.*560T>G
ENST00000530893.7:c.8824T>G	ENSP00000499438.2:p.Phe2942Val
ENST00000665585.2:c.*755T>G	ENSP00000499570.2:n.*755T>G
ENST00000666593.2:c.9193T>G	ENSP00000499256.2:p.Phe3065Val
ENST00000700202.2:c.9142T>G	ENSP00000514856.2:p.Phe3048Val
ENST00000700202.1:c.1609T>G	ENSP00000514856.1:p.Phe537Val
ENST00000700203.1:n.1320T>G
ENST00000380152.8:c.9193T>G MANE Select	ENSP00000369497.3:p.Phe3065Val
ENST00000544455.6:c.9193T>G	ENSP00000439902.1:p.Phe3065Val
ENST00000614259.2:c.9201T>G	ENSP00000506251.1:n.9201T>G
ENST00000665585.1:c.2071T>G
ENST00000666593.1:c.76T>G	ENSP00000499256.1:p.Phe26Val
ENST00000680887.1:c.9193T>G	ENSP00000505508.1:p.Phe3065Val
ENST00000380152.7:c.9193T>G	ENSP00000369497.3:p.Phe3065Val
ENST00000470094.1:c.150T>G
ENST00000544455.5:c.9193T>G	ENSP00000439902.1:p.Phe3065Val
NM_000059.3:c.9193T>G , LRG_293t1:c.9193T>G	NP_000050.2:p.Phe3065Val
XM_011535203.1:c.9193T>G	XP_011533505.1:p.Phe3065Val
XM_011535204.1:c.9097T>G	XP_011533506.1:p.Phe3033Val
NM_000059.4:c.9193T>G MANE Select	NP_000050.3:p.Phe3065Val