Canonical Allele Identifier: CA338406

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 216266
• ClinVar RCV Id: RCV000199137 ; RCV001284601
• dbSNP Id: rs863224602
• MyVariant Identifiers: chr13:g.32972394G>A (hg19) ; chr13:g.32398257G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398257G>A , CM000675.2:g.32398257G>A	GRCh38
NC_000013.10:g.32972394G>A , CM000675.1:g.32972394G>A	GRCh37
NC_000013.9:g.31870394G>A	NCBI36
NG_012772.3:g.87778G>A , LRG_293:g.87778G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*267G>A	ENSP00000434898.2:n.*267G>A
ENST00000528762.2:c.*1111G>A	ENSP00000433168.2:n.*1111G>A
ENST00000530893.7:c.9375G>A	ENSP00000499438.2:p.Met3125Ile
ENST00000665585.2:c.*1306G>A	ENSP00000499570.2:n.*1306G>A
ENST00000700202.2:c.9693G>A	ENSP00000514856.2:p.Met3231Ile
ENST00000700202.1:c.2160G>A	ENSP00000514856.1:p.Met720Ile
ENST00000700203.1:n.1871G>A
ENST00000380152.8:c.9744G>A MANE Select	ENSP00000369497.3:p.Met3248Ile
ENST00000544455.6:c.9744G>A	ENSP00000439902.1:p.Met3248Ile
ENST00000614259.2:c.9752G>A	ENSP00000506251.1:n.9752G>A
ENST00000680887.1:c.9744G>A	ENSP00000505508.1:p.Met3248Ile
ENST00000380152.7:c.9744G>A	ENSP00000369497.3:p.Met3248Ile
ENST00000470094.1:c.827G>A
ENST00000533776.1:n.332G>A
ENST00000544455.5:c.9744G>A	ENSP00000439902.1:p.Met3248Ile
NM_000059.3:c.9744G>A , LRG_293t1:c.9744G>A	NP_000050.2:p.Met3248Ile
XM_011535203.1:c.9744G>A	XP_011533505.1:p.Met3248Ile
XM_011535204.1:c.9648G>A	XP_011533506.1:p.Met3216Ile
NM_000059.4:c.9744G>A MANE Select	NP_000050.3:p.Met3248Ile