Canonical Allele Identifier: CA387765625

Gene: BRCA2

Linked Data

• dbSNP Id: rs1593201751
• MyVariant Identifiers: chr13:g.32972393T>G (hg19) ; chr13:g.32398256T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398256T>G , CM000675.2:g.32398256T>G	GRCh38
NC_000013.10:g.32972393T>G , CM000675.1:g.32972393T>G	GRCh37
NC_000013.9:g.31870393T>G	NCBI36
NG_012772.3:g.87777T>G , LRG_293:g.87777T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*266T>G	ENSP00000434898.2:n.*266T>G
ENST00000528762.2:c.*1110T>G	ENSP00000433168.2:n.*1110T>G
ENST00000530893.7:c.9374T>G	ENSP00000499438.2:p.Met3125Arg
ENST00000665585.2:c.*1305T>G	ENSP00000499570.2:n.*1305T>G
ENST00000700202.2:c.9692T>G	ENSP00000514856.2:p.Met3231Arg
ENST00000700202.1:c.2159T>G	ENSP00000514856.1:p.Met720Arg
ENST00000700203.1:n.1870T>G
ENST00000380152.8:c.9743T>G MANE Select	ENSP00000369497.3:p.Met3248Arg
ENST00000544455.6:c.9743T>G	ENSP00000439902.1:p.Met3248Arg
ENST00000614259.2:c.9751T>G	ENSP00000506251.1:n.9751T>G
ENST00000680887.1:c.9743T>G	ENSP00000505508.1:p.Met3248Arg
ENST00000380152.7:c.9743T>G	ENSP00000369497.3:p.Met3248Arg
ENST00000470094.1:c.826T>G
ENST00000533776.1:n.331T>G
ENST00000544455.5:c.9743T>G	ENSP00000439902.1:p.Met3248Arg
NM_000059.3:c.9743T>G , LRG_293t1:c.9743T>G	NP_000050.2:p.Met3248Arg
XM_011535203.1:c.9743T>G	XP_011533505.1:p.Met3248Arg
XM_011535204.1:c.9647T>G	XP_011533506.1:p.Met3216Arg
NM_000059.4:c.9743T>G MANE Select	NP_000050.3:p.Met3248Arg