Canonical Allele Identifier: CA483273865
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs2137452439
MyVariant Identifiers: chr13:g.32900689T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32326552T>A , CM000675.2:g.32326552T>A GRCh38
NC_000013.10:g.32900689T>A , CM000675.1:g.32900689T>A GRCh37
NC_000013.9:g.31798689T>A NCBI36
NG_012772.3:g.16073T>A , LRG_293:g.16073T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.570T>A ENSP00000434898.2:p.Pro190=
ENST00000528762.2:c.570T>A ENSP00000433168.2:p.Pro190=
ENST00000530893.7:c.201T>A ENSP00000499438.2:p.Pro67=
ENST00000665585.2:c.570T>A ENSP00000499570.2:p.Pro190=
ENST00000666593.2:c.570T>A ENSP00000499256.2:p.Pro190=
ENST00000700202.2:c.570T>A ENSP00000514856.2:p.Pro190=
ENST00000700200.1:n.441T>A
ENST00000700201.1:c.*349T>A ENSP00000514855.1:n.*349T>A
ENST00000380152.8:c.570T>A MANE Select ENSP00000369497.3:p.Pro190=
ENST00000544455.6:c.570T>A ENSP00000439902.1:p.Pro190=
ENST00000614259.2:c.570T>A ENSP00000506251.1:p.Pro190=
ENST00000680887.1:c.570T>A ENSP00000505508.1:p.Pro190=
ENST00000380152.7:c.570T>A ENSP00000369497.3:p.Pro190=
ENST00000530893.6:n.768T>A
ENST00000544455.5:c.570T>A ENSP00000439902.1:p.Pro190=
ENST00000614259.1:n.570T>A
NM_000059.3:c.570T>A , LRG_293t1:c.570T>A NP_000050.2:p.Pro190=
XM_011535203.1:c.570T>A XP_011533505.1:p.Pro190=
XM_011535204.1:c.570T>A XP_011533506.1:p.Pro190=
XM_011535205.1:c.570T>A XP_011533507.1:p.Pro190=
NM_000059.4:c.570T>A MANE Select NP_000050.3:p.Pro190=