Canonical Allele Identifier: CA387757400

Gene: BRCA2

Linked Data

• gnomAD v4: 13-32379773-T-C
• MyVariant Identifiers: chr13:g.32953910T>C (hg19) ; chr13:g.32379773T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379773T>C , CM000675.2:g.32379773T>C	GRCh38
NC_000013.10:g.32953910T>C , CM000675.1:g.32953910T>C	GRCh37
NC_000013.9:g.31851910T>C	NCBI36
NG_012772.3:g.69294T>C , LRG_293:g.69294T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8977T>C	ENSP00000434898.2:p.Ser2993Pro
ENST00000528762.2:c.*344T>C	ENSP00000433168.2:n.*344T>C
ENST00000530893.7:c.8608T>C	ENSP00000499438.2:p.Ser2870Pro
ENST00000665585.2:c.*539T>C	ENSP00000499570.2:n.*539T>C
ENST00000666593.2:c.8977T>C	ENSP00000499256.2:p.Ser2993Pro
ENST00000700202.2:c.8954-28T>C	ENSP00000514856.2:n.8954-28T>C
ENST00000700202.1:c.1421-28T>C	ENSP00000514856.1:n.1421-28T>C
ENST00000700203.1:n.1104T>C
ENST00000380152.8:c.8977T>C MANE Select	ENSP00000369497.3:p.Ser2993Pro
ENST00000544455.6:c.8977T>C	ENSP00000439902.1:p.Ser2993Pro
ENST00000614259.2:c.8985T>C	ENSP00000506251.1:n.8985T>C
ENST00000665585.1:c.1855T>C
ENST00000680887.1:c.8977T>C	ENSP00000505508.1:p.Ser2993Pro
ENST00000380152.7:c.8977T>C	ENSP00000369497.3:p.Ser2993Pro
ENST00000544455.5:c.8977T>C	ENSP00000439902.1:p.Ser2993Pro
NM_000059.3:c.8977T>C , LRG_293t1:c.8977T>C	NP_000050.2:p.Ser2993Pro
XM_011535203.1:c.8977T>C	XP_011533505.1:p.Ser2993Pro
XM_011535204.1:c.8881T>C	XP_011533506.1:p.Ser2961Pro
XM_011535205.1:c.*15T>C	XP_011533507.1:n.*15T>C
NM_000059.4:c.8977T>C MANE Select	NP_000050.3:p.Ser2993Pro