Canonical Allele Identifier: CA387754900

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 441418
• ClinVar RCV Id: RCV000509591 ; RCV001232737 ; RCV001821427 ; RCV003159128
• dbSNP Id: rs1555288167
• MyVariant Identifiers: chr13:g.32950884C>T (hg19) ; chr13:g.32376747C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376747C>T , CM000675.2:g.32376747C>T	GRCh38
NC_000013.10:g.32950884C>T , CM000675.1:g.32950884C>T	GRCh37
NC_000013.9:g.31848884C>T	NCBI36
NG_012772.3:g.66268C>T , LRG_293:g.66268C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8710C>T	ENSP00000434898.2:p.Leu2904Phe
ENST00000528762.2:c.*77C>T	ENSP00000433168.2:n.*77C>T
ENST00000530893.7:c.8341C>T	ENSP00000499438.2:p.Leu2781Phe
ENST00000665585.2:c.*272C>T	ENSP00000499570.2:n.*272C>T
ENST00000666593.2:c.8710C>T	ENSP00000499256.2:p.Leu2904Phe
ENST00000700202.2:c.8710C>T	ENSP00000514856.2:p.Leu2904Phe
ENST00000700202.1:c.1177C>T	ENSP00000514856.1:p.Leu393Phe
ENST00000700203.1:n.837C>T
ENST00000380152.8:c.8710C>T MANE Select	ENSP00000369497.3:p.Leu2904Phe
ENST00000544455.6:c.8710C>T	ENSP00000439902.1:p.Leu2904Phe
ENST00000614259.2:c.8718C>T	ENSP00000506251.1:n.8718C>T
ENST00000665585.1:c.1588C>T
ENST00000680887.1:c.8710C>T	ENSP00000505508.1:p.Leu2904Phe
ENST00000380152.7:c.8710C>T	ENSP00000369497.3:p.Leu2904Phe
ENST00000528762.1:c.272C>T	ENSP00000433168.1:n.272C>T
ENST00000544455.5:c.8710C>T	ENSP00000439902.1:p.Leu2904Phe
NM_000059.3:c.8710C>T , LRG_293t1:c.8710C>T	NP_000050.2:p.Leu2904Phe
XM_011535203.1:c.8710C>T	XP_011533505.1:p.Leu2904Phe
XM_011535204.1:c.8614C>T	XP_011533506.1:p.Leu2872Phe
XM_011535205.1:c.8710C>T	XP_011533507.1:p.Leu2904Phe
NM_000059.4:c.8710C>T MANE Select	NP_000050.3:p.Leu2904Phe