Canonical Allele Identifier: CA10579844

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 232457
• ClinVar RCV Id: RCV000215117 ; RCV003997975
• dbSNP Id: rs876659778
• MyVariant Identifiers: chr13:g.32972392A>C (hg19) ; chr13:g.32398255A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398255A>C , CM000675.2:g.32398255A>C	GRCh38
NC_000013.10:g.32972392A>C , CM000675.1:g.32972392A>C	GRCh37
NC_000013.9:g.31870392A>C	NCBI36
NG_012772.3:g.87776A>C , LRG_293:g.87776A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*265A>C	ENSP00000434898.2:n.*265A>C
ENST00000528762.2:c.*1109A>C	ENSP00000433168.2:n.*1109A>C
ENST00000530893.7:c.9373A>C	ENSP00000499438.2:p.Met3125Leu
ENST00000665585.2:c.*1304A>C	ENSP00000499570.2:n.*1304A>C
ENST00000700202.2:c.9691A>C	ENSP00000514856.2:p.Met3231Leu
ENST00000700202.1:c.2158A>C	ENSP00000514856.1:p.Met720Leu
ENST00000700203.1:n.1869A>C
ENST00000380152.8:c.9742A>C MANE Select	ENSP00000369497.3:p.Met3248Leu
ENST00000544455.6:c.9742A>C	ENSP00000439902.1:p.Met3248Leu
ENST00000614259.2:c.9750A>C	ENSP00000506251.1:n.9750A>C
ENST00000680887.1:c.9742A>C	ENSP00000505508.1:p.Met3248Leu
ENST00000380152.7:c.9742A>C	ENSP00000369497.3:p.Met3248Leu
ENST00000470094.1:c.825A>C
ENST00000533776.1:n.330A>C
ENST00000544455.5:c.9742A>C	ENSP00000439902.1:p.Met3248Leu
NM_000059.3:c.9742A>C , LRG_293t1:c.9742A>C	NP_000050.2:p.Met3248Leu
XM_011535203.1:c.9742A>C	XP_011533505.1:p.Met3248Leu
XM_011535204.1:c.9646A>C	XP_011533506.1:p.Met3216Leu
NM_000059.4:c.9742A>C MANE Select	NP_000050.3:p.Met3248Leu