Canonical Allele Identifier: CA2622597044

Gene: BRCA2

Linked Data

• gnomAD v4: 13-32315606-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32315606T>C , CM000675.2:g.32315606T>C	GRCh38
NC_000013.10:g.32889743T>C , CM000675.1:g.32889743T>C	GRCh37
NC_000013.9:g.31787743T>C	NCBI36
NG_012772.3:g.5127T>C , LRG_293:g.5127T>C
NG_017006.1:g.1349A>G
NG_017006.2:g.4758A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.-101T>C	ENSP00000434898.2:n.-101T>C
ENST00000528762.2:c.-101T>C	ENSP00000433168.2:n.-101T>C
ENST00000530893.7:c.-466T>C	ENSP00000499438.2:n.-466T>C
ENST00000665585.2:c.-101T>C	ENSP00000499570.2:n.-101T>C
ENST00000666593.2:c.-101T>C	ENSP00000499256.2:n.-101T>C
ENST00000700202.2:c.-101T>C	ENSP00000514856.2:n.-101T>C
ENST00000700199.1:n.24T>C
ENST00000700200.1:n.24T>C
ENST00000700201.1:c.-101T>C	ENSP00000514855.1:n.-101T>C
ENST00000380152.8:c.-101T>C MANE Select	ENSP00000369497.3:n.-101T>C
ENST00000544455.6:c.-40+461T>C	ENSP00000439902.1:n.-40+461T>C
ENST00000380152.7:c.-101T>C	ENSP00000369497.3:n.-101T>C
ENST00000530893.6:n.102T>C
ENST00000544455.5:c.-101T>C	ENSP00000439902.1:n.-101T>C
NM_000059.3:c.-101T>C , LRG_293t1:c.-101T>C	NP_000050.2:n.-101T>C
XM_011535203.1:c.-40+461T>C	XP_011533505.1:n.-40+461T>C
XM_011535204.1:c.-101T>C	XP_011533506.1:n.-101T>C
XM_011535205.1:c.-101T>C	XP_011533507.1:n.-101T>C
NM_000059.4:c.-101T>C MANE Select	NP_000050.3:n.-101T>C