Canonical Allele Identifier: CA387760727

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 491373
• ClinVar RCV Id: RCV000583352
• dbSNP Id: rs730881569
• gnomAD v4: 13-32394694-G-T
• MyVariant Identifiers: chr13:g.32968831G>T (hg19) ; chr13:g.32394694G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394694G>T , CM000675.2:g.32394694G>T	GRCh38
NC_000013.10:g.32968831G>T , CM000675.1:g.32968831G>T	GRCh37
NC_000013.9:g.31866831G>T	NCBI36
NG_012772.3:g.84215G>T , LRG_293:g.84215G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9262G>T	ENSP00000434898.2:p.Ala3088Ser
ENST00000528762.2:c.*629G>T	ENSP00000433168.2:n.*629G>T
ENST00000530893.7:c.8893G>T	ENSP00000499438.2:p.Ala2965Ser
ENST00000665585.2:c.*824G>T	ENSP00000499570.2:n.*824G>T
ENST00000666593.2:c.*107G>T	ENSP00000499256.2:n.*107G>T
ENST00000700202.2:c.9211G>T	ENSP00000514856.2:p.Ala3071Ser
ENST00000700202.1:c.1678G>T	ENSP00000514856.1:p.Ala560Ser
ENST00000700203.1:n.1389G>T
ENST00000380152.8:c.9262G>T MANE Select	ENSP00000369497.3:p.Ala3088Ser
ENST00000544455.6:c.9262G>T	ENSP00000439902.1:p.Ala3088Ser
ENST00000614259.2:c.9270G>T	ENSP00000506251.1:n.9270G>T
ENST00000665585.1:c.2140G>T
ENST00000666593.1:c.284G>T	ENSP00000499256.1:n.284G>T
ENST00000680887.1:c.9262G>T	ENSP00000505508.1:p.Ala3088Ser
ENST00000380152.7:c.9262G>T	ENSP00000369497.3:p.Ala3088Ser
ENST00000470094.1:c.219G>T
ENST00000544455.5:c.9262G>T	ENSP00000439902.1:p.Ala3088Ser
NM_000059.3:c.9262G>T , LRG_293t1:c.9262G>T	NP_000050.2:p.Ala3088Ser
XM_011535203.1:c.9262G>T	XP_011533505.1:p.Ala3088Ser
XM_011535204.1:c.9166G>T	XP_011533506.1:p.Ala3056Ser
NM_000059.4:c.9262G>T MANE Select	NP_000050.3:p.Ala3088Ser