Canonical Allele Identifier: CA2622596982

Gene: BRCA2

Linked Data

• gnomAD v4: 13-32315507-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32315507C>A , CM000675.2:g.32315507C>A	GRCh38
NC_000013.10:g.32889644C>A , CM000675.1:g.32889644C>A	GRCh37
NC_000013.9:g.31787644C>A	NCBI36
NG_012772.3:g.5028C>A , LRG_293:g.5028C>A
NG_017006.1:g.1448G>T
NG_017006.2:g.4857G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530893.7:c.-565C>A	ENSP00000499438.2:n.-565C>A
ENST00000544455.6:c.-40+362C>A	ENSP00000439902.1:n.-40+362C>A
ENST00000380152.7:c.-200C>A	ENSP00000369497.3:n.-200C>A
ENST00000530893.6:n.3C>A
ENST00000544455.5:c.-200C>A	ENSP00000439902.1:n.-200C>A
NM_000059.3:c.-200C>A , LRG_293t1:c.-200C>A	NP_000050.2:n.-200C>A
XM_011535203.1:c.-40+362C>A	XP_011533505.1:n.-40+362C>A
XM_011535204.1:c.-200C>A	XP_011533506.1:n.-200C>A
XM_011535205.1:c.-200C>A	XP_011533507.1:n.-200C>A