Canonical Allele Identifier: CA16614378

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 415673
• ClinVar RCV Id: RCV000472545 ; RCV001188081 ; RCV000615420
• dbSNP Id: rs1060504623
• gnomAD v4: 13-32379778-A-T
• MyVariant Identifiers: chr13:g.32953915A>T (hg19) ; chr13:g.32379778A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379778A>T , CM000675.2:g.32379778A>T	GRCh38
NC_000013.10:g.32953915A>T , CM000675.1:g.32953915A>T	GRCh37
NC_000013.9:g.31851915A>T	NCBI36
NG_012772.3:g.69299A>T , LRG_293:g.69299A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8982A>T	ENSP00000434898.2:p.Ser2994=
ENST00000528762.2:c.*349A>T	ENSP00000433168.2:n.*349A>T
ENST00000530893.7:c.8613A>T	ENSP00000499438.2:p.Ser2871=
ENST00000665585.2:c.*544A>T	ENSP00000499570.2:n.*544A>T
ENST00000666593.2:c.8982A>T	ENSP00000499256.2:p.Ser2994=
ENST00000700202.2:c.8954-23A>T	ENSP00000514856.2:n.8954-23A>T
ENST00000700202.1:c.1421-23A>T	ENSP00000514856.1:n.1421-23A>T
ENST00000700203.1:n.1109A>T
ENST00000380152.8:c.8982A>T MANE Select	ENSP00000369497.3:p.Ser2994=
ENST00000544455.6:c.8982A>T	ENSP00000439902.1:p.Ser2994=
ENST00000614259.2:c.8990A>T	ENSP00000506251.1:n.8990A>T
ENST00000665585.1:c.1860A>T
ENST00000680887.1:c.8982A>T	ENSP00000505508.1:p.Ser2994=
ENST00000380152.7:c.8982A>T	ENSP00000369497.3:p.Ser2994=
ENST00000544455.5:c.8982A>T	ENSP00000439902.1:p.Ser2994=
NM_000059.3:c.8982A>T , LRG_293t1:c.8982A>T	NP_000050.2:p.Ser2994=
XM_011535203.1:c.8982A>T	XP_011533505.1:p.Ser2994=
XM_011535204.1:c.8886A>T	XP_011533506.1:p.Ser2962=
XM_011535205.1:c.*20A>T	XP_011533507.1:n.*20A>T
NM_000059.4:c.8982A>T MANE Select	NP_000050.3:p.Ser2994=