Canonical Allele Identifier: CA2622596988

Gene: BRCA2

Linked Data

• gnomAD v4: 13-32315514-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32315514G>T , CM000675.2:g.32315514G>T	GRCh38
NC_000013.10:g.32889651G>T , CM000675.1:g.32889651G>T	GRCh37
NC_000013.9:g.31787651G>T	NCBI36
NG_012772.3:g.5035G>T , LRG_293:g.5035G>T
NG_017006.1:g.1441C>A
NG_017006.2:g.4850C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.-193G>T	ENSP00000434898.2:n.-193G>T
ENST00000528762.2:c.-193G>T	ENSP00000433168.2:n.-193G>T
ENST00000530893.7:c.-558G>T	ENSP00000499438.2:n.-558G>T
ENST00000665585.2:c.-193G>T	ENSP00000499570.2:n.-193G>T
ENST00000666593.2:c.-193G>T	ENSP00000499256.2:n.-193G>T
ENST00000700202.2:c.-193G>T	ENSP00000514856.2:n.-193G>T
ENST00000380152.8:c.-193G>T MANE Select	ENSP00000369497.3:n.-193G>T
ENST00000544455.6:c.-40+369G>T	ENSP00000439902.1:n.-40+369G>T
ENST00000380152.7:c.-193G>T	ENSP00000369497.3:n.-193G>T
ENST00000530893.6:n.10G>T
ENST00000544455.5:c.-193G>T	ENSP00000439902.1:n.-193G>T
NM_000059.3:c.-193G>T , LRG_293t1:c.-193G>T	NP_000050.2:n.-193G>T
XM_011535203.1:c.-40+369G>T	XP_011533505.1:n.-40+369G>T
XM_011535204.1:c.-193G>T	XP_011533506.1:n.-193G>T
XM_011535205.1:c.-193G>T	XP_011533507.1:n.-193G>T
NM_000059.4:c.-193G>T MANE Select	NP_000050.3:n.-193G>T