Canonical Allele Identifier: CA387757270

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1765090
• ClinVar RCV Id: RCV002376099
• MyVariant Identifiers: chr13:g.32953612G>C (hg19) ; chr13:g.32379475G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379475G>C , CM000675.2:g.32379475G>C	GRCh38
NC_000013.10:g.32953612G>C , CM000675.1:g.32953612G>C	GRCh37
NC_000013.9:g.31851612G>C	NCBI36
NG_012772.3:g.68996G>C , LRG_293:g.68996G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8913G>C	ENSP00000434898.2:p.Lys2971Asn
ENST00000528762.2:c.*280G>C	ENSP00000433168.2:n.*280G>C
ENST00000530893.7:c.8544G>C	ENSP00000499438.2:p.Lys2848Asn
ENST00000665585.2:c.*475G>C	ENSP00000499570.2:n.*475G>C
ENST00000666593.2:c.8913G>C	ENSP00000499256.2:p.Lys2971Asn
ENST00000700202.2:c.8913G>C	ENSP00000514856.2:p.Lys2971Asn
ENST00000700202.1:c.1380G>C	ENSP00000514856.1:p.Lys460Asn
ENST00000700203.1:n.1040G>C
ENST00000380152.8:c.8913G>C MANE Select	ENSP00000369497.3:p.Lys2971Asn
ENST00000544455.6:c.8913G>C	ENSP00000439902.1:p.Lys2971Asn
ENST00000614259.2:c.8921G>C	ENSP00000506251.1:n.8921G>C
ENST00000665585.1:c.1791G>C
ENST00000680887.1:c.8913G>C	ENSP00000505508.1:p.Lys2971Asn
ENST00000380152.7:c.8913G>C	ENSP00000369497.3:p.Lys2971Asn
ENST00000528762.1:c.475G>C	ENSP00000433168.1:n.475G>C
ENST00000544455.5:c.8913G>C	ENSP00000439902.1:p.Lys2971Asn
NM_000059.3:c.8913G>C , LRG_293t1:c.8913G>C	NP_000050.2:p.Lys2971Asn
XM_011535203.1:c.8913G>C	XP_011533505.1:p.Lys2971Asn
XM_011535204.1:c.8817G>C	XP_011533506.1:p.Lys2939Asn
XM_011535205.1:c.8755-275G>C	XP_011533507.1:n.8755-275G>C
NM_000059.4:c.8913G>C MANE Select	NP_000050.3:p.Lys2971Asn