Canonical Allele Identifier: CA387757272

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2094509
• ClinVar RCV Id: RCV003025503 ; RCV004007770
• dbSNP Id: rs1555288398
• gnomAD v4: 13-32379476-T-A
• MyVariant Identifiers: chr13:g.32953613T>A (hg19) ; chr13:g.32379476T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379476T>A , CM000675.2:g.32379476T>A	GRCh38
NC_000013.10:g.32953613T>A , CM000675.1:g.32953613T>A	GRCh37
NC_000013.9:g.31851613T>A	NCBI36
NG_012772.3:g.68997T>A , LRG_293:g.68997T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8914T>A	ENSP00000434898.2:p.Leu2972Met
ENST00000528762.2:c.*281T>A	ENSP00000433168.2:n.*281T>A
ENST00000530893.7:c.8545T>A	ENSP00000499438.2:p.Leu2849Met
ENST00000665585.2:c.*476T>A	ENSP00000499570.2:n.*476T>A
ENST00000666593.2:c.8914T>A	ENSP00000499256.2:p.Leu2972Met
ENST00000700202.2:c.8914T>A	ENSP00000514856.2:p.Leu2972Met
ENST00000700202.1:c.1381T>A	ENSP00000514856.1:p.Leu461Met
ENST00000700203.1:n.1041T>A
ENST00000380152.8:c.8914T>A MANE Select	ENSP00000369497.3:p.Leu2972Met
ENST00000544455.6:c.8914T>A	ENSP00000439902.1:p.Leu2972Met
ENST00000614259.2:c.8922T>A	ENSP00000506251.1:n.8922T>A
ENST00000665585.1:c.1792T>A
ENST00000680887.1:c.8914T>A	ENSP00000505508.1:p.Leu2972Met
ENST00000380152.7:c.8914T>A	ENSP00000369497.3:p.Leu2972Met
ENST00000528762.1:c.476T>A	ENSP00000433168.1:n.476T>A
ENST00000544455.5:c.8914T>A	ENSP00000439902.1:p.Leu2972Met
NM_000059.3:c.8914T>A , LRG_293t1:c.8914T>A	NP_000050.2:p.Leu2972Met
XM_011535203.1:c.8914T>A	XP_011533505.1:p.Leu2972Met
XM_011535204.1:c.8818T>A	XP_011533506.1:p.Leu2940Met
XM_011535205.1:c.8755-274T>A	XP_011533507.1:n.8755-274T>A
NM_000059.4:c.8914T>A MANE Select	NP_000050.3:p.Leu2972Met