Canonical Allele Identifier: CA387761172

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1766690
• ClinVar RCV Id: RCV002450100
• MyVariant Identifiers: chr13:g.32968936A>C (hg19) ; chr13:g.32394799A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394799A>C , CM000675.2:g.32394799A>C	GRCh38
NC_000013.10:g.32968936A>C , CM000675.1:g.32968936A>C	GRCh37
NC_000013.9:g.31866936A>C	NCBI36
NG_012772.3:g.84320A>C , LRG_293:g.84320A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9367A>C	ENSP00000434898.2:p.Ser3123Arg
ENST00000528762.2:c.*734A>C	ENSP00000433168.2:n.*734A>C
ENST00000530893.7:c.8998A>C	ENSP00000499438.2:p.Ser3000Arg
ENST00000665585.2:c.*929A>C	ENSP00000499570.2:n.*929A>C
ENST00000666593.2:c.*212A>C	ENSP00000499256.2:n.*212A>C
ENST00000700202.2:c.9316A>C	ENSP00000514856.2:p.Ser3106Arg
ENST00000700202.1:c.1783A>C	ENSP00000514856.1:p.Ser595Arg
ENST00000700203.1:n.1494A>C
ENST00000380152.8:c.9367A>C MANE Select	ENSP00000369497.3:p.Ser3123Arg
ENST00000544455.6:c.9367A>C	ENSP00000439902.1:p.Ser3123Arg
ENST00000614259.2:c.9375A>C	ENSP00000506251.1:n.9375A>C
ENST00000665585.1:c.2245A>C
ENST00000666593.1:c.389A>C	ENSP00000499256.1:n.389A>C
ENST00000680887.1:c.9367A>C	ENSP00000505508.1:p.Ser3123Arg
ENST00000380152.7:c.9367A>C	ENSP00000369497.3:p.Ser3123Arg
ENST00000470094.1:c.324A>C
ENST00000544455.5:c.9367A>C	ENSP00000439902.1:p.Ser3123Arg
NM_000059.3:c.9367A>C , LRG_293t1:c.9367A>C	NP_000050.2:p.Ser3123Arg
XM_011535203.1:c.9367A>C	XP_011533505.1:p.Ser3123Arg
XM_011535204.1:c.9271A>C	XP_011533506.1:p.Ser3091Arg
NM_000059.4:c.9367A>C MANE Select	NP_000050.3:p.Ser3123Arg