Canonical Allele Identifier: CA387754622

Gene: BRCA2

Linked Data

• dbSNP Id: rs763287077
• MyVariant Identifiers: chr13:g.32950812A>C (hg19) ; chr13:g.32376675A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376675A>C , CM000675.2:g.32376675A>C	GRCh38
NC_000013.10:g.32950812A>C , CM000675.1:g.32950812A>C	GRCh37
NC_000013.9:g.31848812A>C	NCBI36
NG_012772.3:g.66196A>C , LRG_293:g.66196A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8638A>C	ENSP00000434898.2:p.Thr2880Pro
ENST00000528762.2:c.*5A>C	ENSP00000433168.2:n.*5A>C
ENST00000530893.7:c.8269A>C	ENSP00000499438.2:p.Thr2757Pro
ENST00000665585.2:c.*200A>C	ENSP00000499570.2:n.*200A>C
ENST00000666593.2:c.8638A>C	ENSP00000499256.2:p.Thr2880Pro
ENST00000700202.2:c.8638A>C	ENSP00000514856.2:p.Thr2880Pro
ENST00000700202.1:c.1105A>C	ENSP00000514856.1:p.Thr369Pro
ENST00000700203.1:n.765A>C
ENST00000380152.8:c.8638A>C MANE Select	ENSP00000369497.3:p.Thr2880Pro
ENST00000544455.6:c.8638A>C	ENSP00000439902.1:p.Thr2880Pro
ENST00000614259.2:c.8646A>C	ENSP00000506251.1:n.8646A>C
ENST00000665585.1:c.1516A>C
ENST00000680887.1:c.8638A>C	ENSP00000505508.1:p.Thr2880Pro
ENST00000380152.7:c.8638A>C	ENSP00000369497.3:p.Thr2880Pro
ENST00000528762.1:c.200A>C	ENSP00000433168.1:n.200A>C
ENST00000544455.5:c.8638A>C	ENSP00000439902.1:p.Thr2880Pro
NM_000059.3:c.8638A>C , LRG_293t1:c.8638A>C	NP_000050.2:p.Thr2880Pro
XM_011535203.1:c.8638A>C	XP_011533505.1:p.Thr2880Pro
XM_011535204.1:c.8542A>C	XP_011533506.1:p.Thr2848Pro
XM_011535205.1:c.8638A>C	XP_011533507.1:p.Thr2880Pro
NM_000059.4:c.8638A>C MANE Select	NP_000050.3:p.Thr2880Pro