Canonical Allele Identifier: CA387757477

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32953950A>C (hg19) ; chr13:g.32379813A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379813A>C , CM000675.2:g.32379813A>C	GRCh38
NC_000013.10:g.32953950A>C , CM000675.1:g.32953950A>C	GRCh37
NC_000013.9:g.31851950A>C	NCBI36
NG_012772.3:g.69334A>C , LRG_293:g.69334A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9017A>C	ENSP00000434898.2:p.Tyr3006Ser
ENST00000528762.2:c.*384A>C	ENSP00000433168.2:n.*384A>C
ENST00000530893.7:c.8648A>C	ENSP00000499438.2:p.Tyr2883Ser
ENST00000665585.2:c.*579A>C	ENSP00000499570.2:n.*579A>C
ENST00000666593.2:c.9017A>C	ENSP00000499256.2:p.Tyr3006Ser
ENST00000700202.2:c.8966A>C	ENSP00000514856.2:p.Tyr2989Ser
ENST00000700202.1:c.1433A>C	ENSP00000514856.1:p.Tyr478Ser
ENST00000700203.1:n.1144A>C
ENST00000380152.8:c.9017A>C MANE Select	ENSP00000369497.3:p.Tyr3006Ser
ENST00000544455.6:c.9017A>C	ENSP00000439902.1:p.Tyr3006Ser
ENST00000614259.2:c.9025A>C	ENSP00000506251.1:n.9025A>C
ENST00000665585.1:c.1895A>C
ENST00000680887.1:c.9017A>C	ENSP00000505508.1:p.Tyr3006Ser
ENST00000380152.7:c.9017A>C	ENSP00000369497.3:p.Tyr3006Ser
ENST00000544455.5:c.9017A>C	ENSP00000439902.1:p.Tyr3006Ser
NM_000059.3:c.9017A>C , LRG_293t1:c.9017A>C	NP_000050.2:p.Tyr3006Ser
XM_011535203.1:c.9017A>C	XP_011533505.1:p.Tyr3006Ser
XM_011535204.1:c.8921A>C	XP_011533506.1:p.Tyr2974Ser
XM_011535205.1:c.*55A>C	XP_011533507.1:n.*55A>C
NM_000059.4:c.9017A>C MANE Select	NP_000050.3:p.Tyr3006Ser