Canonical Allele Identifier: CA387757765

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32954147T>C (hg19) ; chr13:g.32380010T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380010T>C , CM000675.2:g.32380010T>C	GRCh38
NC_000013.10:g.32954147T>C , CM000675.1:g.32954147T>C	GRCh37
NC_000013.9:g.31852147T>C	NCBI36
NG_012772.3:g.69531T>C , LRG_293:g.69531T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9121T>C	ENSP00000434898.2:p.Ser3041Pro
ENST00000528762.2:c.*488T>C	ENSP00000433168.2:n.*488T>C
ENST00000530893.7:c.8752T>C	ENSP00000499438.2:p.Ser2918Pro
ENST00000665585.2:c.*683T>C	ENSP00000499570.2:n.*683T>C
ENST00000666593.2:c.9121T>C	ENSP00000499256.2:p.Ser3041Pro
ENST00000700202.2:c.9070T>C	ENSP00000514856.2:p.Ser3024Pro
ENST00000700202.1:c.1537T>C	ENSP00000514856.1:p.Ser513Pro
ENST00000700203.1:n.1248T>C
ENST00000380152.8:c.9121T>C MANE Select	ENSP00000369497.3:p.Ser3041Pro
ENST00000544455.6:c.9121T>C	ENSP00000439902.1:p.Ser3041Pro
ENST00000614259.2:c.9129T>C	ENSP00000506251.1:n.9129T>C
ENST00000665585.1:c.1999T>C
ENST00000666593.1:c.4T>C	ENSP00000499256.1:p.Ser2Pro
ENST00000680887.1:c.9121T>C	ENSP00000505508.1:p.Ser3041Pro
ENST00000380152.7:c.9121T>C	ENSP00000369497.3:p.Ser3041Pro
ENST00000470094.1:c.78T>C
ENST00000544455.5:c.9121T>C	ENSP00000439902.1:p.Ser3041Pro
NM_000059.3:c.9121T>C , LRG_293t1:c.9121T>C	NP_000050.2:p.Ser3041Pro
XM_011535203.1:c.9121T>C	XP_011533505.1:p.Ser3041Pro
XM_011535204.1:c.9025T>C	XP_011533506.1:p.Ser3009Pro
NM_000059.4:c.9121T>C MANE Select	NP_000050.3:p.Ser3041Pro