Canonical Allele Identifier: CA387788165

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 479375
• ClinVar RCV Id: RCV000572108 ; RCV000813354 ; RCV001193886 ; RCV001775881 ; RCV004000832
• dbSNP Id: rs1160083526
• gnomAD v3: 13-32340476-T-C
• gnomAD v4: 13-32340476-T-C
• MyVariant Identifiers: chr13:g.32914613T>C (hg19) ; chr13:g.32340476T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32340476T>C , CM000675.2:g.32340476T>C	GRCh38
NC_000013.10:g.32914613T>C , CM000675.1:g.32914613T>C	GRCh37
NC_000013.9:g.31812613T>C	NCBI36
NG_012772.3:g.29997T>C , LRG_293:g.29997T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.6121T>C	ENSP00000434898.2:p.Ser2041Pro
ENST00000528762.2:c.6121T>C	ENSP00000433168.2:p.Ser2041Pro
ENST00000530893.7:c.5752T>C	ENSP00000499438.2:p.Ser1918Pro
ENST00000665585.2:c.6121T>C	ENSP00000499570.2:p.Ser2041Pro
ENST00000666593.2:c.6121T>C	ENSP00000499256.2:p.Ser2041Pro
ENST00000700202.2:c.6121T>C	ENSP00000514856.2:p.Ser2041Pro
ENST00000380152.8:c.6121T>C MANE Select	ENSP00000369497.3:p.Ser2041Pro
ENST00000544455.6:c.6121T>C	ENSP00000439902.1:p.Ser2041Pro
ENST00000614259.2:c.6121T>C	ENSP00000506251.1:p.Ser2041Pro
ENST00000680887.1:c.6121T>C	ENSP00000505508.1:p.Ser2041Pro
ENST00000380152.7:c.6121T>C	ENSP00000369497.3:p.Ser2041Pro
ENST00000544455.5:c.6121T>C	ENSP00000439902.1:p.Ser2041Pro
ENST00000614259.1:n.6121T>C
NM_000059.3:c.6121T>C , LRG_293t1:c.6121T>C	NP_000050.2:p.Ser2041Pro
XM_011535203.1:c.6121T>C	XP_011533505.1:p.Ser2041Pro
XM_011535204.1:c.6121T>C	XP_011533506.1:p.Ser2041Pro
XM_011535205.1:c.6121T>C	XP_011533507.1:p.Ser2041Pro
NM_000059.4:c.6121T>C MANE Select	NP_000050.3:p.Ser2041Pro