Canonical Allele Identifier: CA387752728

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 481518
• ClinVar RCV Id: RCV000573644 ; RCV003530073
• dbSNP Id: rs876660403
• gnomAD v4: 13-32370995-A-C
• MyVariant Identifiers: chr13:g.32945132A>C (hg19) ; chr13:g.32370995A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370995A>C , CM000675.2:g.32370995A>C	GRCh38
NC_000013.10:g.32945132A>C , CM000675.1:g.32945132A>C	GRCh37
NC_000013.9:g.31843132A>C	NCBI36
NG_012772.3:g.60516A>C , LRG_293:g.60516A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8527A>C	ENSP00000434898.2:p.Asn2843His
ENST00000528762.2:c.8527A>C	ENSP00000433168.2:p.Asn2843His
ENST00000530893.7:c.8158A>C	ENSP00000499438.2:p.Asn2720His
ENST00000665585.2:c.8527A>C	ENSP00000499570.2:p.Asn2843His
ENST00000666593.2:c.8527A>C	ENSP00000499256.2:p.Asn2843His
ENST00000700202.2:c.8527A>C	ENSP00000514856.2:p.Asn2843His
ENST00000700202.1:c.994A>C	ENSP00000514856.1:p.Asn332His
ENST00000380152.8:c.8527A>C MANE Select	ENSP00000369497.3:p.Asn2843His
ENST00000544455.6:c.8527A>C	ENSP00000439902.1:p.Asn2843His
ENST00000614259.2:c.8535A>C	ENSP00000506251.1:n.8535A>C
ENST00000665585.1:c.1092A>C
ENST00000680887.1:c.8527A>C	ENSP00000505508.1:p.Asn2843His
ENST00000380152.7:c.8527A>C	ENSP00000369497.3:p.Asn2843His
ENST00000528762.1:c.25A>C	ENSP00000433168.1:p.Asn9His
ENST00000544455.5:c.8527A>C	ENSP00000439902.1:p.Asn2843His
NM_000059.3:c.8527A>C , LRG_293t1:c.8527A>C	NP_000050.2:p.Asn2843His
XM_011535203.1:c.8527A>C	XP_011533505.1:p.Asn2843His
XM_011535204.1:c.8431A>C	XP_011533506.1:p.Asn2811His
XM_011535205.1:c.8527A>C	XP_011533507.1:p.Asn2843His
NM_000059.4:c.8527A>C MANE Select	NP_000050.3:p.Asn2843His