Canonical Allele Identifier: CA387753032

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1331801
• ClinVar RCV Id: RCV001804317
• dbSNP Id: rs2138698375
• gnomAD v4: 13-32316502-T-G
• MyVariant Identifiers: chr13:g.32890639T>G (hg19) ; chr13:g.32316502T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32316502T>G , CM000675.2:g.32316502T>G	GRCh38
NC_000013.10:g.32890639T>G , CM000675.1:g.32890639T>G	GRCh37
NC_000013.9:g.31788639T>G	NCBI36
NG_012772.3:g.6023T>G , LRG_293:g.6023T>G
NG_017006.1:g.453A>C
NG_017006.2:g.3862A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.42T>G	ENSP00000434898.2:p.Ile14Met
ENST00000528762.2:c.42T>G	ENSP00000433168.2:p.Ile14Met
ENST00000530893.7:c.-324T>G	ENSP00000499438.2:n.-324T>G
ENST00000665585.2:c.42T>G	ENSP00000499570.2:p.Ile14Met
ENST00000666593.2:c.42T>G	ENSP00000499256.2:p.Ile14Met
ENST00000700202.2:c.42T>G	ENSP00000514856.2:p.Ile14Met
ENST00000700199.1:n.166T>G
ENST00000700200.1:n.166T>G
ENST00000700201.1:c.42T>G	ENSP00000514855.1:p.Ile14Met
ENST00000380152.8:c.42T>G MANE Select	ENSP00000369497.3:p.Ile14Met
ENST00000544455.6:c.42T>G	ENSP00000439902.1:p.Ile14Met
ENST00000614259.2:c.42T>G	ENSP00000506251.1:p.Ile14Met
ENST00000680887.1:c.42T>G	ENSP00000505508.1:p.Ile14Met
ENST00000380152.7:c.42T>G	ENSP00000369497.3:p.Ile14Met
ENST00000530893.6:n.244T>G
ENST00000544455.5:c.42T>G	ENSP00000439902.1:p.Ile14Met
ENST00000614259.1:n.42T>G
NM_000059.3:c.42T>G , LRG_293t1:c.42T>G	NP_000050.2:p.Ile14Met
XM_011535203.1:c.42T>G	XP_011533505.1:p.Ile14Met
XM_011535204.1:c.42T>G	XP_011533506.1:p.Ile14Met
XM_011535205.1:c.42T>G	XP_011533507.1:p.Ile14Met
NM_000059.4:c.42T>G MANE Select	NP_000050.3:p.Ile14Met