Canonical Allele Identifier: CA387757299

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 462506
• ClinVar RCV Id: RCV000550010 ; RCV000771705
• dbSNP Id: rs587776473
• MyVariant Identifiers: chr13:g.32953628T>C (hg19) ; chr13:g.32379491T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379491T>C , CM000675.2:g.32379491T>C	GRCh38
NC_000013.10:g.32953628T>C , CM000675.1:g.32953628T>C	GRCh37
NC_000013.9:g.31851628T>C	NCBI36
NG_012772.3:g.69012T>C , LRG_293:g.69012T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8929T>C	ENSP00000434898.2:p.Tyr2977His
ENST00000528762.2:c.*296T>C	ENSP00000433168.2:n.*296T>C
ENST00000530893.7:c.8560T>C	ENSP00000499438.2:p.Tyr2854His
ENST00000665585.2:c.*491T>C	ENSP00000499570.2:n.*491T>C
ENST00000666593.2:c.8929T>C	ENSP00000499256.2:p.Tyr2977His
ENST00000700202.2:c.8929T>C	ENSP00000514856.2:p.Tyr2977His
ENST00000700202.1:c.1396T>C	ENSP00000514856.1:p.Tyr466His
ENST00000700203.1:n.1056T>C
ENST00000380152.8:c.8929T>C MANE Select	ENSP00000369497.3:p.Tyr2977His
ENST00000544455.6:c.8929T>C	ENSP00000439902.1:p.Tyr2977His
ENST00000614259.2:c.8937T>C	ENSP00000506251.1:n.8937T>C
ENST00000665585.1:c.1807T>C
ENST00000680887.1:c.8929T>C	ENSP00000505508.1:p.Tyr2977His
ENST00000380152.7:c.8929T>C	ENSP00000369497.3:p.Tyr2977His
ENST00000528762.1:c.491T>C	ENSP00000433168.1:n.491T>C
ENST00000544455.5:c.8929T>C	ENSP00000439902.1:p.Tyr2977His
NM_000059.3:c.8929T>C , LRG_293t1:c.8929T>C	NP_000050.2:p.Tyr2977His
XM_011535203.1:c.8929T>C	XP_011533505.1:p.Tyr2977His
XM_011535204.1:c.8833T>C	XP_011533506.1:p.Tyr2945His
XM_011535205.1:c.8755-259T>C	XP_011533507.1:n.8755-259T>C
NM_000059.4:c.8929T>C MANE Select	NP_000050.3:p.Tyr2977His