Canonical Allele Identifier: CA018644

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 156167
• ClinVar RCV Id: RCV000144184 ; RCV000160068 ; RCV000575098 ; RCV000537690 ; RCV001704061 ; RCV004532626
• dbSNP Id: rs374191973
• ExAC: 13:32912207 A / G
• gnomAD v2: 13-32912207-A-G
• gnomAD v3: 13-32338070-A-G
• gnomAD v4: 13-32338070-A-G
• MyVariant Identifiers: chr13:g.32912207A>G (hg19) ; chr13:g.32338070A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32338070A>G , CM000675.2:g.32338070A>G	GRCh38
NC_000013.10:g.32912207A>G , CM000675.1:g.32912207A>G	GRCh37
NC_000013.9:g.31810207A>G	NCBI36
NG_012772.3:g.27591A>G , LRG_293:g.27591A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.3715A>G	ENSP00000434898.2:p.Lys1239Glu
ENST00000528762.2:c.3715A>G	ENSP00000433168.2:p.Lys1239Glu
ENST00000530893.7:c.3346A>G	ENSP00000499438.2:p.Lys1116Glu
ENST00000665585.2:c.3715A>G	ENSP00000499570.2:p.Lys1239Glu
ENST00000666593.2:c.3715A>G	ENSP00000499256.2:p.Lys1239Glu
ENST00000700202.2:c.3715A>G	ENSP00000514856.2:p.Lys1239Glu
ENST00000380152.8:c.3715A>G MANE Select	ENSP00000369497.3:p.Lys1239Glu
ENST00000544455.6:c.3715A>G	ENSP00000439902.1:p.Lys1239Glu
ENST00000614259.2:c.3715A>G	ENSP00000506251.1:p.Lys1239Glu
ENST00000680887.1:c.3715A>G	ENSP00000505508.1:p.Lys1239Glu
ENST00000380152.7:c.3715A>G	ENSP00000369497.3:p.Lys1239Glu
ENST00000544455.5:c.3715A>G	ENSP00000439902.1:p.Lys1239Glu
ENST00000614259.1:n.3715A>G
NM_000059.3:c.3715A>G , LRG_293t1:c.3715A>G	NP_000050.2:p.Lys1239Glu
XM_011535203.1:c.3715A>G	XP_011533505.1:p.Lys1239Glu
XM_011535204.1:c.3715A>G	XP_011533506.1:p.Lys1239Glu
XM_011535205.1:c.3715A>G	XP_011533507.1:p.Lys1239Glu
NM_000059.4:c.3715A>G MANE Select	NP_000050.3:p.Lys1239Glu