Canonical Allele Identifier: CA026302

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38264
• ClinVar RCV Id: RCV000031847 ; RCV000130205 ; RCV000457079 ; RCV000759695 ; RCV001194062
• dbSNP Id: rs397507436
• gnomAD v2: 13-32972462-T-C
• gnomAD v3: 13-32398325-T-C
• gnomAD v4: 13-32398325-T-C
• MyVariant Identifiers: chr13:g.32972462T>C (hg19) ; chr13:g.32398325T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398325T>C , CM000675.2:g.32398325T>C	GRCh38
NC_000013.10:g.32972462T>C , CM000675.1:g.32972462T>C	GRCh37
NC_000013.9:g.31870462T>C	NCBI36
NG_012772.3:g.87846T>C , LRG_293:g.87846T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*335T>C	ENSP00000434898.2:n.*335T>C
ENST00000528762.2:c.*1179T>C	ENSP00000433168.2:n.*1179T>C
ENST00000530893.7:c.9443T>C	ENSP00000499438.2:p.Leu3148Ser
ENST00000665585.2:c.*1374T>C	ENSP00000499570.2:n.*1374T>C
ENST00000700202.2:c.9761T>C	ENSP00000514856.2:p.Leu3254Ser
ENST00000700202.1:c.2228T>C	ENSP00000514856.1:p.Leu743Ser
ENST00000700203.1:n.1939T>C
ENST00000380152.8:c.9812T>C MANE Select	ENSP00000369497.3:p.Leu3271Ser
ENST00000544455.6:c.9812T>C	ENSP00000439902.1:p.Leu3271Ser
ENST00000614259.2:c.9820T>C	ENSP00000506251.1:n.9820T>C
ENST00000680887.1:c.9812T>C	ENSP00000505508.1:p.Leu3271Ser
ENST00000380152.7:c.9812T>C	ENSP00000369497.3:p.Leu3271Ser
ENST00000533776.1:n.400T>C
ENST00000544455.5:c.9812T>C	ENSP00000439902.1:p.Leu3271Ser
NM_000059.3:c.9812T>C , LRG_293t1:c.9812T>C	NP_000050.2:p.Leu3271Ser
XM_011535203.1:c.9812T>C	XP_011533505.1:p.Leu3271Ser
XM_011535204.1:c.9716T>C	XP_011533506.1:p.Leu3239Ser
NM_000059.4:c.9812T>C MANE Select	NP_000050.3:p.Leu3271Ser