Canonical Allele Identifier: CA247478018

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 882070
• ClinVar RCV Id: RCV001111445 ; RCV001111446 ; RCV001425606 ; RCV002511042 ; RCV002259082
• dbSNP Id: rs1036870835
• gnomAD v2: 13-32889624-G-T
• gnomAD v3: 13-32315487-G-T
• gnomAD v4: 13-32315487-G-T
• MyVariant Identifiers: chr13:g.32889624G>T (hg19) ; chr13:g.32315487G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32315487G>T , CM000675.2:g.32315487G>T	GRCh38
NC_000013.10:g.32889624G>T , CM000675.1:g.32889624G>T	GRCh37
NC_000013.9:g.31787624G>T	NCBI36
NG_012772.3:g.5008G>T , LRG_293:g.5008G>T
NG_017006.1:g.1468C>A
NG_017006.2:g.4877C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000544455.6:c.-40+342G>T	ENSP00000439902.1:n.-40+342G>T
ENST00000380152.7:c.-220G>T	ENSP00000369497.3:n.-220G>T
ENST00000544455.5:c.-220G>T	ENSP00000439902.1:n.-220G>T
NM_000059.3:c.-220G>T , LRG_293t1:c.-220G>T	NP_000050.2:n.-220G>T
XM_011535203.1:c.-40+342G>T	XP_011533505.1:n.-40+342G>T
XM_011535204.1:c.-220G>T	XP_011533506.1:n.-220G>T
XM_011535205.1:c.-220G>T	XP_011533507.1:n.-220G>T