Canonical Allele Identifier: CA387757320

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32953639A>C (hg19) ; chr13:g.32379502A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379502A>C , CM000675.2:g.32379502A>C	GRCh38
NC_000013.10:g.32953639A>C , CM000675.1:g.32953639A>C	GRCh37
NC_000013.9:g.31851639A>C	NCBI36
NG_012772.3:g.69023A>C , LRG_293:g.69023A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8940A>C	ENSP00000434898.2:p.Lys2980Asn
ENST00000528762.2:c.*307A>C	ENSP00000433168.2:n.*307A>C
ENST00000530893.7:c.8571A>C	ENSP00000499438.2:p.Lys2857Asn
ENST00000665585.2:c.*502A>C	ENSP00000499570.2:n.*502A>C
ENST00000666593.2:c.8940A>C	ENSP00000499256.2:p.Lys2980Asn
ENST00000700202.2:c.8940A>C	ENSP00000514856.2:p.Lys2980Asn
ENST00000700202.1:c.1407A>C	ENSP00000514856.1:p.Lys469Asn
ENST00000700203.1:n.1067A>C
ENST00000380152.8:c.8940A>C MANE Select	ENSP00000369497.3:p.Lys2980Asn
ENST00000544455.6:c.8940A>C	ENSP00000439902.1:p.Lys2980Asn
ENST00000614259.2:c.8948A>C	ENSP00000506251.1:n.8948A>C
ENST00000665585.1:c.1818A>C
ENST00000680887.1:c.8940A>C	ENSP00000505508.1:p.Lys2980Asn
ENST00000380152.7:c.8940A>C	ENSP00000369497.3:p.Lys2980Asn
ENST00000544455.5:c.8940A>C	ENSP00000439902.1:p.Lys2980Asn
NM_000059.3:c.8940A>C , LRG_293t1:c.8940A>C	NP_000050.2:p.Lys2980Asn
XM_011535203.1:c.8940A>C	XP_011533505.1:p.Lys2980Asn
XM_011535204.1:c.8844A>C	XP_011533506.1:p.Lys2948Asn
XM_011535205.1:c.8755-248A>C	XP_011533507.1:n.8755-248A>C
NM_000059.4:c.8940A>C MANE Select	NP_000050.3:p.Lys2980Asn