Canonical Allele Identifier: CA387756231

Gene: BRCA2

Linked Data

• dbSNP Id: rs1228570038
• gnomAD v3: 13-32379404-A-G
• gnomAD v4: 13-32379404-A-G
• MyVariant Identifiers: chr13:g.32953541A>G (hg19) ; chr13:g.32379404A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379404A>G , CM000675.2:g.32379404A>G	GRCh38
NC_000013.10:g.32953541A>G , CM000675.1:g.32953541A>G	GRCh37
NC_000013.9:g.31851541A>G	NCBI36
NG_012772.3:g.68925A>G , LRG_293:g.68925A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8842A>G	ENSP00000434898.2:p.Ile2948Val
ENST00000528762.2:c.*209A>G	ENSP00000433168.2:n.*209A>G
ENST00000530893.7:c.8473A>G	ENSP00000499438.2:p.Ile2825Val
ENST00000665585.2:c.*404A>G	ENSP00000499570.2:n.*404A>G
ENST00000666593.2:c.8842A>G	ENSP00000499256.2:p.Ile2948Val
ENST00000700202.2:c.8842A>G	ENSP00000514856.2:p.Ile2948Val
ENST00000700202.1:c.1309A>G	ENSP00000514856.1:p.Ile437Val
ENST00000700203.1:n.969A>G
ENST00000380152.8:c.8842A>G MANE Select	ENSP00000369497.3:p.Ile2948Val
ENST00000544455.6:c.8842A>G	ENSP00000439902.1:p.Ile2948Val
ENST00000614259.2:c.8850A>G	ENSP00000506251.1:n.8850A>G
ENST00000665585.1:c.1720A>G
ENST00000680887.1:c.8842A>G	ENSP00000505508.1:p.Ile2948Val
ENST00000380152.7:c.8842A>G	ENSP00000369497.3:p.Ile2948Val
ENST00000528762.1:c.404A>G	ENSP00000433168.1:n.404A>G
ENST00000544455.5:c.8842A>G	ENSP00000439902.1:p.Ile2948Val
NM_000059.3:c.8842A>G , LRG_293t1:c.8842A>G	NP_000050.2:p.Ile2948Val
XM_011535203.1:c.8842A>G	XP_011533505.1:p.Ile2948Val
XM_011535204.1:c.8746A>G	XP_011533506.1:p.Ile2916Val
XM_011535205.1:c.8755-346A>G	XP_011533507.1:n.8755-346A>G
NM_000059.4:c.8842A>G MANE Select	NP_000050.3:p.Ile2948Val