Canonical Allele Identifier: CA387754675

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 993172
• ClinVar RCV Id: RCV001284416 ; RCV001871657 ; RCV002436994 ; RCV003473847 ; RCV004004944 ; RCV003321821
• dbSNP Id: rs2072290175
• gnomAD v3: 13-32319310-T-C
• gnomAD v4: 13-32319310-T-C
• MyVariant Identifiers: chr13:g.32893447T>C (hg19) ; chr13:g.32319310T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319310T>C , CM000675.2:g.32319310T>C	GRCh38
NC_000013.10:g.32893447T>C , CM000675.1:g.32893447T>C	GRCh37
NC_000013.9:g.31791447T>C	NCBI36
NG_012772.3:g.8831T>C , LRG_293:g.8831T>C
NG_017006.2:g.1054A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.301T>C	ENSP00000434898.2:p.Phe101Leu
ENST00000528762.2:c.301T>C	ENSP00000433168.2:p.Phe101Leu
ENST00000530893.7:c.-69T>C	ENSP00000499438.2:n.-69T>C
ENST00000665585.2:c.301T>C	ENSP00000499570.2:p.Phe101Leu
ENST00000666593.2:c.301T>C	ENSP00000499256.2:p.Phe101Leu
ENST00000700202.2:c.301T>C	ENSP00000514856.2:p.Phe101Leu
ENST00000700200.1:n.191+2783T>C
ENST00000700201.1:c.301T>C	ENSP00000514855.1:p.Phe101Leu
ENST00000380152.8:c.301T>C MANE Select	ENSP00000369497.3:p.Phe101Leu
ENST00000544455.6:c.301T>C	ENSP00000439902.1:p.Phe101Leu
ENST00000614259.2:c.301T>C	ENSP00000506251.1:p.Phe101Leu
ENST00000680887.1:c.301T>C	ENSP00000505508.1:p.Phe101Leu
ENST00000380152.7:c.301T>C	ENSP00000369497.3:p.Phe101Leu
ENST00000530893.6:n.499T>C
ENST00000544455.5:c.301T>C	ENSP00000439902.1:p.Phe101Leu
ENST00000614259.1:n.301T>C
NM_000059.3:c.301T>C , LRG_293t1:c.301T>C	NP_000050.2:p.Phe101Leu
XM_011535203.1:c.301T>C	XP_011533505.1:p.Phe101Leu
XM_011535204.1:c.301T>C	XP_011533506.1:p.Phe101Leu
XM_011535205.1:c.301T>C	XP_011533507.1:p.Phe101Leu
NM_000059.4:c.301T>C MANE Select	NP_000050.3:p.Phe101Leu