Canonical Allele Identifier: CA10579789

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 230287
• ClinVar RCV Id: RCV000219415 ; RCV000457355
• dbSNP Id: rs786202484
• gnomAD v2: 13-32944686-C-G
• MyVariant Identifiers: chr13:g.32944686C>G (hg19) ; chr13:g.32370549C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370549C>G , CM000675.2:g.32370549C>G	GRCh38
NC_000013.10:g.32944686C>G , CM000675.1:g.32944686C>G	GRCh37
NC_000013.9:g.31842686C>G	NCBI36
NG_012772.3:g.60070C>G , LRG_293:g.60070C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8479C>G	ENSP00000434898.2:p.Pro2827Ala
ENST00000528762.2:c.8479C>G	ENSP00000433168.2:p.Pro2827Ala
ENST00000530893.7:c.8110C>G	ENSP00000499438.2:p.Pro2704Ala
ENST00000665585.2:c.8479C>G	ENSP00000499570.2:p.Pro2827Ala
ENST00000666593.2:c.8479C>G	ENSP00000499256.2:p.Pro2827Ala
ENST00000700202.2:c.8479C>G	ENSP00000514856.2:p.Pro2827Ala
ENST00000700202.1:c.946C>G	ENSP00000514856.1:p.Pro316Ala
ENST00000380152.8:c.8479C>G MANE Select	ENSP00000369497.3:p.Pro2827Ala
ENST00000544455.6:c.8479C>G	ENSP00000439902.1:p.Pro2827Ala
ENST00000614259.2:c.8487C>G	ENSP00000506251.1:n.8487C>G
ENST00000665585.1:c.1044C>G
ENST00000680887.1:c.8479C>G	ENSP00000505508.1:p.Pro2827Ala
ENST00000380152.7:c.8479C>G	ENSP00000369497.3:p.Pro2827Ala
ENST00000544455.5:c.8479C>G	ENSP00000439902.1:p.Pro2827Ala
NM_000059.3:c.8479C>G , LRG_293t1:c.8479C>G	NP_000050.2:p.Pro2827Ala
XM_011535203.1:c.8479C>G	XP_011533505.1:p.Pro2827Ala
XM_011535204.1:c.8383C>G	XP_011533506.1:p.Pro2795Ala
XM_011535205.1:c.8479C>G	XP_011533507.1:p.Pro2827Ala
NM_000059.4:c.8479C>G MANE Select	NP_000050.3:p.Pro2827Ala